Canonical Allele Identifier: CA382890512

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1030657
• ClinVar RCV Id: RCV001332261
• dbSNP Id: rs1946187914
• MyVariant Identifiers: chr11:g.118960401T>C (hg19) ; chr11:g.119089691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089691T>C , CM000673.2:g.119089691T>C	GRCh38
NC_000011.9:g.118960401T>C , CM000673.1:g.118960401T>C	GRCh37
NC_000011.8:g.118465611T>C	NCBI36
NG_008093.1:g.9815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.110T>C	ENSP00000509288.1:p.Leu37Pro
ENST00000686690.1:n.896T>C
ENST00000691144.1:n.2016T>C
ENST00000691249.1:n.859T>C
ENST00000442944.7:c.257T>C	ENSP00000392041.3:p.Leu86Pro
ENST00000534956.2:n.224T>C
ENST00000536813.6:c.224T>C	ENSP00000438726.2:p.Leu75Pro
ENST00000546302.6:c.267-299T>C	ENSP00000445599.1:n.267-299T>C
ENST00000640813.1:c.224T>C	ENSP00000491061.1:p.Leu75Pro
ENST00000648026.1:c.269T>C	ENSP00000498044.1:p.Leu90Pro
ENST00000648374.1:c.224T>C	ENSP00000497255.1:p.Leu75Pro
ENST00000648488.1:c.224T>C	ENSP00000498079.1:p.Leu75Pro
ENST00000649823.1:n.492T>C
ENST00000649868.1:c.130T>C	ENSP00000497548.1:p.Trp44Arg
ENST00000650101.1:c.206T>C	ENSP00000496970.1:p.Leu69Pro
ENST00000650307.1:n.1101T>C
ENST00000652429.1:c.275T>C MANE Select	ENSP00000498786.1:p.Leu92Pro
ENST00000278715.7:c.275T>C	ENSP00000278715.3:p.Leu92Pro
ENST00000392841.1:c.224T>C	ENSP00000376584.1:p.Leu75Pro
ENST00000442944.6:c.224T>C	ENSP00000392041.2:p.Leu75Pro
ENST00000534956.1:n.191T>C
ENST00000535253.5:c.224T>C	ENSP00000442079.1:p.Leu75Pro
ENST00000535793.5:c.*170T>C	ENSP00000439904.1:n.*170T>C
ENST00000536185.5:n.393T>C
ENST00000536813.5:c.257T>C	ENSP00000438726.1:p.Leu86Pro
ENST00000537841.5:c.224T>C	ENSP00000444730.1:p.Leu75Pro
ENST00000539986.5:c.224T>C	ENSP00000440092.1:p.Leu75Pro
ENST00000542044.5:n.720T>C
ENST00000542345.5:n.413T>C
ENST00000542729.5:c.224T>C	ENSP00000443058.1:p.Leu75Pro
ENST00000542822.5:c.*211T>C	ENSP00000444817.1:n.*211T>C
ENST00000543090.5:c.221T>C	ENSP00000445429.1:p.Leu74Pro
ENST00000543543.5:n.510T>C
ENST00000543821.5:n.421T>C
ENST00000544360.5:n.243T>C
ENST00000544387.5:c.275T>C	ENSP00000438424.1:p.Leu92Pro
ENST00000545621.5:c.*170T>C	ENSP00000444849.1:n.*170T>C
ENST00000546226.5:n.334T>C
ENST00000546302.5:c.267-299T>C	ENSP00000445599.1:n.267-299T>C
NM_000190.3:c.275T>C	NP_000181.2:p.Leu92Pro
NM_001024382.1:c.224T>C	NP_001019553.1:p.Leu75Pro
NM_001258208.1:c.275T>C	NP_001245137.1:p.Leu92Pro
NM_001258209.1:c.224T>C	NP_001245138.1:p.Leu75Pro
XM_005271531.1:c.224T>C	XP_005271588.1:p.Leu75Pro
XM_005271532.1:c.224T>C	XP_005271589.1:p.Leu75Pro
XM_005271533.2:c.221T>C	XP_005271590.1:p.Leu74Pro
XM_011542796.1:c.110T>C	XP_011541098.1:p.Leu37Pro
NM_000190.4:c.275T>C MANE Select	NP_000181.2:p.Leu92Pro
NM_001024382.2:c.224T>C	NP_001019553.1:p.Leu75Pro
XM_005271533.3:c.221T>C	XP_005271590.1:p.Leu74Pro
XM_017017629.1:c.224T>C	XP_016873118.1:p.Leu75Pro
XM_024448460.1:c.221T>C	XP_024304228.1:p.Leu74Pro
NM_001258208.2:c.275T>C	NP_001245137.1:p.Leu92Pro
NM_001258209.2:c.224T>C	NP_001245138.1:p.Leu75Pro