Canonical Allele Identifier: CA382898952

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093008-A-C
• MyVariant Identifiers: chr11:g.118963718A>C (hg19) ; chr11:g.119093008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093008A>C , CM000673.2:g.119093008A>C	GRCh38
NC_000011.9:g.118963718A>C , CM000673.1:g.118963718A>C	GRCh37
NC_000011.8:g.118468928A>C	NCBI36
NG_008093.1:g.13132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.734A>C	ENSP00000509288.1:p.His245Pro
ENST00000691144.1:n.3114A>C
ENST00000691249.1:n.1723A>C
ENST00000442944.7:c.881A>C	ENSP00000392041.3:p.His294Pro
ENST00000640813.1:c.*136A>C	ENSP00000491061.1:n.*136A>C
ENST00000648026.1:c.793A>C	ENSP00000498044.1:n.793A>C
ENST00000648374.1:c.848A>C	ENSP00000497255.1:p.His283Pro
ENST00000650101.1:c.830A>C	ENSP00000496970.1:p.His277Pro
ENST00000650307.1:n.1725A>C
ENST00000652429.1:c.899A>C MANE Select	ENSP00000498786.1:p.His300Pro
ENST00000278715.7:c.899A>C	ENSP00000278715.3:p.His300Pro
ENST00000392841.1:c.848A>C	ENSP00000376584.1:p.His283Pro
ENST00000442944.6:c.848A>C	ENSP00000392041.2:p.His283Pro
ENST00000537841.5:c.848A>C	ENSP00000444730.1:p.His283Pro
ENST00000539045.1:n.398A>C
ENST00000542044.5:n.1344A>C
ENST00000542729.5:c.728A>C	ENSP00000443058.1:p.His243Pro
ENST00000543090.5:c.806A>C	ENSP00000445429.1:p.His269Pro
ENST00000543543.5:n.1374A>C
ENST00000544182.1:n.1348A>C
ENST00000544387.5:c.779A>C	ENSP00000438424.1:p.His260Pro
ENST00000546226.5:n.1661A>C
NM_000190.3:c.899A>C	NP_000181.2:p.His300Pro
NM_001024382.1:c.848A>C	NP_001019553.1:p.His283Pro
NM_001258208.1:c.779A>C	NP_001245137.1:p.His260Pro
NM_001258209.1:c.728A>C	NP_001245138.1:p.His243Pro
XM_005271531.1:c.848A>C	XP_005271588.1:p.His283Pro
XM_005271532.1:c.848A>C	XP_005271589.1:p.His283Pro
XM_005271533.2:c.845A>C	XP_005271590.1:p.His282Pro
XM_011542796.1:c.734A>C	XP_011541098.1:p.His245Pro
NM_000190.4:c.899A>C MANE Select	NP_000181.2:p.His300Pro
NM_001024382.2:c.848A>C	NP_001019553.1:p.His283Pro
XM_005271533.3:c.845A>C	XP_005271590.1:p.His282Pro
XM_017017629.1:c.848A>C	XP_016873118.1:p.His283Pro
XM_024448460.1:c.725A>C	XP_024304228.1:p.His242Pro
NM_001258208.2:c.779A>C	NP_001245137.1:p.His260Pro
NM_001258209.2:c.728A>C	NP_001245138.1:p.His243Pro