Canonical Allele Identifier: CA382899505

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963890A>C (hg19) ; chr11:g.119093180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093180A>C , CM000673.2:g.119093180A>C	GRCh38
NC_000011.9:g.118963890A>C , CM000673.1:g.118963890A>C	GRCh37
NC_000011.8:g.118469100A>C	NCBI36
NG_008093.1:g.13304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.818A>C	ENSP00000509288.1:p.Gln273Pro
ENST00000691144.1:n.3198A>C
ENST00000691249.1:n.1807A>C
ENST00000442944.7:c.965A>C	ENSP00000392041.3:p.Gln322Pro
ENST00000640813.1:c.*220A>C	ENSP00000491061.1:n.*220A>C
ENST00000648026.1:c.877A>C	ENSP00000498044.1:n.877A>C
ENST00000648374.1:c.932A>C	ENSP00000497255.1:p.Gln311Pro
ENST00000650101.1:c.914A>C	ENSP00000496970.1:p.Gln305Pro
ENST00000650307.1:n.1809A>C
ENST00000652429.1:c.983A>C MANE Select	ENSP00000498786.1:p.Gln328Pro
ENST00000278715.7:c.983A>C	ENSP00000278715.3:p.Gln328Pro
ENST00000392841.1:c.932A>C	ENSP00000376584.1:p.Gln311Pro
ENST00000442944.6:c.932A>C	ENSP00000392041.2:p.Gln311Pro
ENST00000537841.5:c.932A>C	ENSP00000444730.1:p.Gln311Pro
ENST00000539045.1:n.482A>C
ENST00000542044.5:n.1428A>C
ENST00000542729.5:c.812A>C	ENSP00000443058.1:p.Gln271Pro
ENST00000543090.5:c.890A>C	ENSP00000445429.1:p.Gln297Pro
ENST00000543543.5:n.1458A>C
ENST00000544182.1:n.1432A>C
ENST00000544387.5:c.863A>C	ENSP00000438424.1:p.Gln288Pro
ENST00000546226.5:n.1745A>C
NM_000190.3:c.983A>C	NP_000181.2:p.Gln328Pro
NM_001024382.1:c.932A>C	NP_001019553.1:p.Gln311Pro
NM_001258208.1:c.863A>C	NP_001245137.1:p.Gln288Pro
NM_001258209.1:c.812A>C	NP_001245138.1:p.Gln271Pro
XM_005271531.1:c.932A>C	XP_005271588.1:p.Gln311Pro
XM_005271532.1:c.932A>C	XP_005271589.1:p.Gln311Pro
XM_005271533.2:c.929A>C	XP_005271590.1:p.Gln310Pro
XM_011542796.1:c.818A>C	XP_011541098.1:p.Gln273Pro
NM_000190.4:c.983A>C MANE Select	NP_000181.2:p.Gln328Pro
NM_001024382.2:c.932A>C	NP_001019553.1:p.Gln311Pro
XM_005271533.3:c.929A>C	XP_005271590.1:p.Gln310Pro
XM_017017629.1:c.932A>C	XP_016873118.1:p.Gln311Pro
XM_024448460.1:c.809A>C	XP_024304228.1:p.Gln270Pro
NM_001258208.2:c.863A>C	NP_001245137.1:p.Gln288Pro
NM_001258209.2:c.812A>C	NP_001245138.1:p.Gln271Pro