Canonical Allele Identifier: CA6313913

Gene: HMBS

Linked Data

• ClinVar Variation Id: 715912
• ClinVar RCV Id: RCV000888463 ; RCV001104609
• dbSNP Id: rs138776835
• ExAC: 11:118959391 C / T
• gnomAD v2: 11-118959391-C-T
• gnomAD v3: 11-119088681-C-T
• gnomAD v4: 11-119088681-C-T
• COSMIC: COSM923739
• MyVariant Identifiers: chr11:g.118959391C>T (hg19) ; chr11:g.119088681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088681C>T , CM000673.2:g.119088681C>T	GRCh38
NC_000011.9:g.118959391C>T , CM000673.1:g.118959391C>T	GRCh37
NC_000011.8:g.118464601C>T	NCBI36
NG_008093.1:g.8805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-32C>T	ENSP00000509288.1:n.-32C>T
ENST00000686690.1:n.296C>T
ENST00000691144.1:n.1416C>T
ENST00000691249.1:n.718C>T
ENST00000442944.7:c.134C>T	ENSP00000392041.3:p.Ser45Leu
ENST00000534956.2:n.83C>T
ENST00000536813.6:c.83C>T	ENSP00000438726.2:p.Ser28Leu
ENST00000546302.6:c.134C>T	ENSP00000445599.1:p.Ser45Leu
ENST00000640813.1:c.83C>T	ENSP00000491061.1:p.Ser28Leu
ENST00000648026.1:c.128C>T	ENSP00000498044.1:p.Ser43Leu
ENST00000648374.1:c.83C>T	ENSP00000497255.1:p.Ser28Leu
ENST00000648488.1:c.83C>T	ENSP00000498079.1:p.Ser28Leu
ENST00000649823.1:n.351C>T
ENST00000649868.1:c.34-419C>T	ENSP00000497548.1:n.34-419C>T
ENST00000650101.1:c.83C>T	ENSP00000496970.1:p.Ser28Leu
ENST00000650307.1:n.586C>T
ENST00000652429.1:c.134C>T MANE Select	ENSP00000498786.1:p.Ser45Leu
ENST00000278715.7:c.134C>T	ENSP00000278715.3:p.Ser45Leu
ENST00000392841.1:c.83C>T	ENSP00000376584.1:p.Ser28Leu
ENST00000442944.6:c.83C>T	ENSP00000392041.2:p.Ser28Leu
ENST00000534956.1:n.50C>T
ENST00000535253.5:c.83C>T	ENSP00000442079.1:p.Ser28Leu
ENST00000535793.5:c.80C>T	ENSP00000439904.1:p.Ser27Leu
ENST00000536185.5:n.302C>T
ENST00000536813.5:c.134C>T	ENSP00000438726.1:p.Ser45Leu
ENST00000537841.5:c.83C>T	ENSP00000444730.1:p.Ser28Leu
ENST00000539986.5:c.83C>T	ENSP00000440092.1:p.Ser28Leu
ENST00000542044.5:n.205C>T
ENST00000542345.5:n.272C>T
ENST00000542729.5:c.83C>T	ENSP00000443058.1:p.Ser28Leu
ENST00000542822.5:c.225C>T	ENSP00000444817.1:p.Leu75=
ENST00000543090.5:c.80C>T	ENSP00000445429.1:p.Ser27Leu
ENST00000543543.5:n.369C>T
ENST00000543821.5:n.280C>T
ENST00000544360.5:n.102C>T
ENST00000544387.5:c.134C>T	ENSP00000438424.1:p.Ser45Leu
ENST00000545621.5:c.134C>T	ENSP00000444849.1:p.Ser45Leu
ENST00000545901.5:n.287C>T
ENST00000546226.5:n.193C>T
ENST00000546302.5:c.134C>T	ENSP00000445599.1:p.Ser45Leu
NM_000190.3:c.134C>T	NP_000181.2:p.Ser45Leu
NM_001024382.1:c.83C>T	NP_001019553.1:p.Ser28Leu
NM_001258208.1:c.134C>T	NP_001245137.1:p.Ser45Leu
NM_001258209.1:c.83C>T	NP_001245138.1:p.Ser28Leu
XM_005271531.1:c.83C>T	XP_005271588.1:p.Ser28Leu
XM_005271532.1:c.83C>T	XP_005271589.1:p.Ser28Leu
XM_005271533.2:c.80C>T	XP_005271590.1:p.Ser27Leu
XM_011542796.1:c.-32C>T	XP_011541098.1:n.-32C>T
NM_000190.4:c.134C>T MANE Select	NP_000181.2:p.Ser45Leu
NM_001024382.2:c.83C>T	NP_001019553.1:p.Ser28Leu
XM_005271533.3:c.80C>T	XP_005271590.1:p.Ser27Leu
XM_017017629.1:c.83C>T	XP_016873118.1:p.Ser28Leu
XM_024448460.1:c.80C>T	XP_024304228.1:p.Ser27Leu
NM_001258208.2:c.134C>T	NP_001245137.1:p.Ser45Leu
NM_001258209.2:c.83C>T	NP_001245138.1:p.Ser28Leu