Canonical Allele Identifier: CA382899740

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963922G>C (hg19) ; chr11:g.119093212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093212G>C , CM000673.2:g.119093212G>C	GRCh38
NC_000011.9:g.118963922G>C , CM000673.1:g.118963922G>C	GRCh37
NC_000011.8:g.118469132G>C	NCBI36
NG_008093.1:g.13336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.850G>C	ENSP00000509288.1:p.Ala284Pro
ENST00000691144.1:n.3230G>C
ENST00000691249.1:n.1839G>C
ENST00000442944.7:c.997G>C	ENSP00000392041.3:p.Ala333Pro
ENST00000640813.1:c.*252G>C	ENSP00000491061.1:n.*252G>C
ENST00000648026.1:c.909G>C	ENSP00000498044.1:n.909G>C
ENST00000648374.1:c.964G>C	ENSP00000497255.1:p.Ala322Pro
ENST00000650101.1:c.946G>C	ENSP00000496970.1:p.Ala316Pro
ENST00000650307.1:n.1841G>C
ENST00000652429.1:c.1015G>C MANE Select	ENSP00000498786.1:p.Ala339Pro
ENST00000278715.7:c.1015G>C	ENSP00000278715.3:p.Ala339Pro
ENST00000392841.1:c.964G>C	ENSP00000376584.1:p.Ala322Pro
ENST00000442944.6:c.964G>C	ENSP00000392041.2:p.Ala322Pro
ENST00000537841.5:c.964G>C	ENSP00000444730.1:p.Ala322Pro
ENST00000539045.1:n.514G>C
ENST00000542044.5:n.1460G>C
ENST00000542729.5:c.844G>C	ENSP00000443058.1:p.Ala282Pro
ENST00000543090.5:c.922G>C	ENSP00000445429.1:p.Ala308Pro
ENST00000543543.5:n.1490G>C
ENST00000544182.1:n.1464G>C
ENST00000544387.5:c.895G>C	ENSP00000438424.1:p.Ala299Pro
ENST00000546226.5:n.1777G>C
NM_000190.3:c.1015G>C	NP_000181.2:p.Ala339Pro
NM_001024382.1:c.964G>C	NP_001019553.1:p.Ala322Pro
NM_001258208.1:c.895G>C	NP_001245137.1:p.Ala299Pro
NM_001258209.1:c.844G>C	NP_001245138.1:p.Ala282Pro
XM_005271531.1:c.964G>C	XP_005271588.1:p.Ala322Pro
XM_005271532.1:c.964G>C	XP_005271589.1:p.Ala322Pro
XM_005271533.2:c.961G>C	XP_005271590.1:p.Ala321Pro
XM_011542796.1:c.850G>C	XP_011541098.1:p.Ala284Pro
NM_000190.4:c.1015G>C MANE Select	NP_000181.2:p.Ala339Pro
NM_001024382.2:c.964G>C	NP_001019553.1:p.Ala322Pro
XM_005271533.3:c.961G>C	XP_005271590.1:p.Ala321Pro
XM_017017629.1:c.964G>C	XP_016873118.1:p.Ala322Pro
XM_024448460.1:c.841G>C	XP_024304228.1:p.Ala281Pro
NM_001258208.2:c.895G>C	NP_001245137.1:p.Ala299Pro
NM_001258209.2:c.844G>C	NP_001245138.1:p.Ala282Pro