Canonical Allele Identifier: CA477369328

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093187-T-C
• MyVariant Identifiers: chr11:g.118963897T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093187T>C , CM000673.2:g.119093187T>C	GRCh38
NC_000011.9:g.118963897T>C , CM000673.1:g.118963897T>C	GRCh37
NC_000011.8:g.118469107T>C	NCBI36
NG_008093.1:g.13311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.825T>C	ENSP00000509288.1:p.Ala275=
ENST00000691144.1:n.3205T>C
ENST00000691249.1:n.1814T>C
ENST00000442944.7:c.972T>C	ENSP00000392041.3:p.Ala324=
ENST00000640813.1:c.*227T>C	ENSP00000491061.1:n.*227T>C
ENST00000648026.1:c.884T>C	ENSP00000498044.1:n.884T>C
ENST00000648374.1:c.939T>C	ENSP00000497255.1:p.Ala313=
ENST00000650101.1:c.921T>C	ENSP00000496970.1:p.Ala307=
ENST00000650307.1:n.1816T>C
ENST00000652429.1:c.990T>C MANE Select	ENSP00000498786.1:p.Ala330=
ENST00000278715.7:c.990T>C	ENSP00000278715.3:p.Ala330=
ENST00000392841.1:c.939T>C	ENSP00000376584.1:p.Ala313=
ENST00000442944.6:c.939T>C	ENSP00000392041.2:p.Ala313=
ENST00000537841.5:c.939T>C	ENSP00000444730.1:p.Ala313=
ENST00000539045.1:n.489T>C
ENST00000542044.5:n.1435T>C
ENST00000542729.5:c.819T>C	ENSP00000443058.1:p.Ala273=
ENST00000543090.5:c.897T>C	ENSP00000445429.1:p.Ala299=
ENST00000543543.5:n.1465T>C
ENST00000544182.1:n.1439T>C
ENST00000544387.5:c.870T>C	ENSP00000438424.1:p.Ala290=
ENST00000546226.5:n.1752T>C
NM_000190.3:c.990T>C	NP_000181.2:p.Ala330=
NM_001024382.1:c.939T>C	NP_001019553.1:p.Ala313=
NM_001258208.1:c.870T>C	NP_001245137.1:p.Ala290=
NM_001258209.1:c.819T>C	NP_001245138.1:p.Ala273=
XM_005271531.1:c.939T>C	XP_005271588.1:p.Ala313=
XM_005271532.1:c.939T>C	XP_005271589.1:p.Ala313=
XM_005271533.2:c.936T>C	XP_005271590.1:p.Ala312=
XM_011542796.1:c.825T>C	XP_011541098.1:p.Ala275=
NM_000190.4:c.990T>C MANE Select	NP_000181.2:p.Ala330=
NM_001024382.2:c.939T>C	NP_001019553.1:p.Ala313=
XM_005271533.3:c.936T>C	XP_005271590.1:p.Ala312=
XM_017017629.1:c.939T>C	XP_016873118.1:p.Ala313=
XM_024448460.1:c.816T>C	XP_024304228.1:p.Ala272=
NM_001258208.2:c.870T>C	NP_001245137.1:p.Ala290=
NM_001258209.2:c.819T>C	NP_001245138.1:p.Ala273=