Canonical Allele Identifier: CA382899539

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093185-G-T
• MyVariant Identifiers: chr11:g.118963895G>T (hg19) ; chr11:g.119093185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093185G>T , CM000673.2:g.119093185G>T	GRCh38
NC_000011.9:g.118963895G>T , CM000673.1:g.118963895G>T	GRCh37
NC_000011.8:g.118469105G>T	NCBI36
NG_008093.1:g.13309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.823G>T	ENSP00000509288.1:p.Ala275Ser
ENST00000691144.1:n.3203G>T
ENST00000691249.1:n.1812G>T
ENST00000442944.7:c.970G>T	ENSP00000392041.3:p.Ala324Ser
ENST00000640813.1:c.*225G>T	ENSP00000491061.1:n.*225G>T
ENST00000648026.1:c.882G>T	ENSP00000498044.1:n.882G>T
ENST00000648374.1:c.937G>T	ENSP00000497255.1:p.Ala313Ser
ENST00000650101.1:c.919G>T	ENSP00000496970.1:p.Ala307Ser
ENST00000650307.1:n.1814G>T
ENST00000652429.1:c.988G>T MANE Select	ENSP00000498786.1:p.Ala330Ser
ENST00000278715.7:c.988G>T	ENSP00000278715.3:p.Ala330Ser
ENST00000392841.1:c.937G>T	ENSP00000376584.1:p.Ala313Ser
ENST00000442944.6:c.937G>T	ENSP00000392041.2:p.Ala313Ser
ENST00000537841.5:c.937G>T	ENSP00000444730.1:p.Ala313Ser
ENST00000539045.1:n.487G>T
ENST00000542044.5:n.1433G>T
ENST00000542729.5:c.817G>T	ENSP00000443058.1:p.Ala273Ser
ENST00000543090.5:c.895G>T	ENSP00000445429.1:p.Ala299Ser
ENST00000543543.5:n.1463G>T
ENST00000544182.1:n.1437G>T
ENST00000544387.5:c.868G>T	ENSP00000438424.1:p.Ala290Ser
ENST00000546226.5:n.1750G>T
NM_000190.3:c.988G>T	NP_000181.2:p.Ala330Ser
NM_001024382.1:c.937G>T	NP_001019553.1:p.Ala313Ser
NM_001258208.1:c.868G>T	NP_001245137.1:p.Ala290Ser
NM_001258209.1:c.817G>T	NP_001245138.1:p.Ala273Ser
XM_005271531.1:c.937G>T	XP_005271588.1:p.Ala313Ser
XM_005271532.1:c.937G>T	XP_005271589.1:p.Ala313Ser
XM_005271533.2:c.934G>T	XP_005271590.1:p.Ala312Ser
XM_011542796.1:c.823G>T	XP_011541098.1:p.Ala275Ser
NM_000190.4:c.988G>T MANE Select	NP_000181.2:p.Ala330Ser
NM_001024382.2:c.937G>T	NP_001019553.1:p.Ala313Ser
XM_005271533.3:c.934G>T	XP_005271590.1:p.Ala312Ser
XM_017017629.1:c.937G>T	XP_016873118.1:p.Ala313Ser
XM_024448460.1:c.814G>T	XP_024304228.1:p.Ala272Ser
NM_001258208.2:c.868G>T	NP_001245137.1:p.Ala290Ser
NM_001258209.2:c.817G>T	NP_001245138.1:p.Ala273Ser