Canonical Allele Identifier: CA477369220

Gene: HMBS

Linked Data

• dbSNP Id: rs1442185995
• gnomAD v3: 11-119093000-T-C
• gnomAD v4: 11-119093000-T-C
• MyVariant Identifiers: chr11:g.118963710T>C (hg19) ; chr11:g.119093000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093000T>C , CM000673.2:g.119093000T>C	GRCh38
NC_000011.9:g.118963710T>C , CM000673.1:g.118963710T>C	GRCh37
NC_000011.8:g.118468920T>C	NCBI36
NG_008093.1:g.13124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.726T>C	ENSP00000509288.1:p.Ala242=
ENST00000691144.1:n.3106T>C
ENST00000691249.1:n.1715T>C
ENST00000442944.7:c.873T>C	ENSP00000392041.3:p.Ala291=
ENST00000640813.1:c.*128T>C	ENSP00000491061.1:n.*128T>C
ENST00000648026.1:c.785T>C	ENSP00000498044.1:n.785T>C
ENST00000648374.1:c.840T>C	ENSP00000497255.1:p.Ala280=
ENST00000650101.1:c.822T>C	ENSP00000496970.1:p.Ala274=
ENST00000650307.1:n.1717T>C
ENST00000652429.1:c.891T>C MANE Select	ENSP00000498786.1:p.Ala297=
ENST00000278715.7:c.891T>C	ENSP00000278715.3:p.Ala297=
ENST00000392841.1:c.840T>C	ENSP00000376584.1:p.Ala280=
ENST00000442944.6:c.840T>C	ENSP00000392041.2:p.Ala280=
ENST00000537841.5:c.840T>C	ENSP00000444730.1:p.Ala280=
ENST00000539045.1:n.390T>C
ENST00000542044.5:n.1336T>C
ENST00000542729.5:c.720T>C	ENSP00000443058.1:p.Ala240=
ENST00000543090.5:c.798T>C	ENSP00000445429.1:p.Ala266=
ENST00000543543.5:n.1366T>C
ENST00000544182.1:n.1340T>C
ENST00000544387.5:c.771T>C	ENSP00000438424.1:p.Ala257=
ENST00000546226.5:n.1653T>C
NM_000190.3:c.891T>C	NP_000181.2:p.Ala297=
NM_001024382.1:c.840T>C	NP_001019553.1:p.Ala280=
NM_001258208.1:c.771T>C	NP_001245137.1:p.Ala257=
NM_001258209.1:c.720T>C	NP_001245138.1:p.Ala240=
XM_005271531.1:c.840T>C	XP_005271588.1:p.Ala280=
XM_005271532.1:c.840T>C	XP_005271589.1:p.Ala280=
XM_005271533.2:c.837T>C	XP_005271590.1:p.Ala279=
XM_011542796.1:c.726T>C	XP_011541098.1:p.Ala242=
NM_000190.4:c.891T>C MANE Select	NP_000181.2:p.Ala297=
NM_001024382.2:c.840T>C	NP_001019553.1:p.Ala280=
XM_005271533.3:c.837T>C	XP_005271590.1:p.Ala279=
XM_017017629.1:c.840T>C	XP_016873118.1:p.Ala280=
XM_024448460.1:c.717T>C	XP_024304228.1:p.Ala239=
NM_001258208.2:c.771T>C	NP_001245137.1:p.Ala257=
NM_001258209.2:c.720T>C	NP_001245138.1:p.Ala240=