Canonical Allele Identifier: CA477128626

Gene: HMBS

Linked Data

• dbSNP Id: rs1258199908
• gnomAD v3: 11-119092487-T-C
• gnomAD v4: 11-119092487-T-C
• MyVariant Identifiers: chr11:g.118963197T>C (hg19) ; chr11:g.119092487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092487T>C , CM000673.2:g.119092487T>C	GRCh38
NC_000011.9:g.118963197T>C , CM000673.1:g.118963197T>C	GRCh37
NC_000011.8:g.118468407T>C	NCBI36
NG_008093.1:g.12611T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.570T>C	ENSP00000509288.1:p.Leu190=
ENST00000691144.1:n.2716T>C
ENST00000691249.1:n.1559T>C
ENST00000442944.7:c.717T>C	ENSP00000392041.3:p.Leu239=
ENST00000536813.6:c.684T>C	ENSP00000438726.2:p.Leu228=
ENST00000640813.1:c.545T>C	ENSP00000491061.1:p.Phe182Ser
ENST00000648026.1:c.629T>C	ENSP00000498044.1:p.Phe210Ser
ENST00000648374.1:c.684T>C	ENSP00000497255.1:p.Leu228=
ENST00000649823.1:n.1192T>C
ENST00000650101.1:c.666T>C	ENSP00000496970.1:p.Leu222=
ENST00000650307.1:n.1561T>C
ENST00000652429.1:c.735T>C MANE Select	ENSP00000498786.1:p.Leu245=
ENST00000278715.7:c.735T>C	ENSP00000278715.3:p.Leu245=
ENST00000392841.1:c.684T>C	ENSP00000376584.1:p.Leu228=
ENST00000442944.6:c.684T>C	ENSP00000392041.2:p.Leu228=
ENST00000537841.5:c.684T>C	ENSP00000444730.1:p.Leu228=
ENST00000542044.5:n.1180T>C
ENST00000542729.5:c.601-271T>C	ENSP00000443058.1:n.601-271T>C
ENST00000543090.5:c.642T>C	ENSP00000445429.1:p.Leu214=
ENST00000543543.5:n.1210T>C
ENST00000544182.1:n.950T>C
ENST00000544387.5:c.652-271T>C	ENSP00000438424.1:n.652-271T>C
ENST00000545621.5:c.*870T>C	ENSP00000444849.1:n.*870T>C
ENST00000546226.5:n.1263T>C
NM_000190.3:c.735T>C	NP_000181.2:p.Leu245=
NM_001024382.1:c.684T>C	NP_001019553.1:p.Leu228=
NM_001258208.1:c.652-271T>C	NP_001245137.1:n.652-271T>C
NM_001258209.1:c.601-271T>C	NP_001245138.1:n.601-271T>C
XM_005271531.1:c.684T>C	XP_005271588.1:p.Leu228=
XM_005271532.1:c.684T>C	XP_005271589.1:p.Leu228=
XM_005271533.2:c.681T>C	XP_005271590.1:p.Leu227=
XM_011542796.1:c.570T>C	XP_011541098.1:p.Leu190=
NM_000190.4:c.735T>C MANE Select	NP_000181.2:p.Leu245=
NM_001024382.2:c.684T>C	NP_001019553.1:p.Leu228=
XM_005271533.3:c.681T>C	XP_005271590.1:p.Leu227=
XM_017017629.1:c.684T>C	XP_016873118.1:p.Leu228=
XM_024448460.1:c.598-271T>C	XP_024304228.1:n.598-271T>C
NM_001258208.2:c.652-271T>C	NP_001245137.1:n.652-271T>C
NM_001258209.2:c.601-271T>C	NP_001245138.1:n.601-271T>C