Canonical Allele Identifier: CA382896748

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962855C>A (hg19) ; chr11:g.119092145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092145C>A , CM000673.2:g.119092145C>A	GRCh38
NC_000011.9:g.118962855C>A , CM000673.1:g.118962855C>A	GRCh37
NC_000011.8:g.118468065C>A	NCBI36
NG_008093.1:g.12269C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.468C>A	ENSP00000509288.1:p.Cys156Ter
ENST00000691144.1:n.2374C>A
ENST00000691249.1:n.1217C>A
ENST00000442944.7:c.615C>A	ENSP00000392041.3:p.Cys205Ter
ENST00000536813.6:c.582C>A	ENSP00000438726.2:p.Cys194Ter
ENST00000546302.6:c.555C>A	ENSP00000445599.1:p.Cys185Ter
ENST00000640813.1:c.462-259C>A	ENSP00000491061.1:n.462-259C>A
ENST00000648026.1:c.527C>A	ENSP00000498044.1:p.Ala176Glu
ENST00000648374.1:c.582C>A	ENSP00000497255.1:p.Cys194Ter
ENST00000648488.1:c.*106C>A	ENSP00000498079.1:n.*106C>A
ENST00000649823.1:n.850C>A
ENST00000650101.1:c.564C>A	ENSP00000496970.1:p.Cys188Ter
ENST00000650307.1:n.1459C>A
ENST00000652429.1:c.633C>A MANE Select	ENSP00000498786.1:p.Cys211Ter
ENST00000278715.7:c.633C>A	ENSP00000278715.3:p.Cys211Ter
ENST00000392841.1:c.582C>A	ENSP00000376584.1:p.Cys194Ter
ENST00000442944.6:c.582C>A	ENSP00000392041.2:p.Cys194Ter
ENST00000537841.5:c.582C>A	ENSP00000444730.1:p.Cys194Ter
ENST00000542044.5:n.1078C>A
ENST00000542345.5:n.771C>A
ENST00000542729.5:c.582C>A	ENSP00000443058.1:p.Cys194Ter
ENST00000543090.5:c.559-259C>A	ENSP00000445429.1:n.559-259C>A
ENST00000543543.5:n.868C>A
ENST00000544182.1:n.608C>A
ENST00000544387.5:c.633C>A	ENSP00000438424.1:p.Cys211Ter
ENST00000545621.5:c.*528C>A	ENSP00000444849.1:n.*528C>A
ENST00000546226.5:n.921C>A
ENST00000546302.5:c.555C>A	ENSP00000445599.1:p.Cys185Ter
NM_000190.3:c.633C>A	NP_000181.2:p.Cys211Ter
NM_001024382.1:c.582C>A	NP_001019553.1:p.Cys194Ter
NM_001258208.1:c.633C>A	NP_001245137.1:p.Cys211Ter
NM_001258209.1:c.582C>A	NP_001245138.1:p.Cys194Ter
XM_005271531.1:c.582C>A	XP_005271588.1:p.Cys194Ter
XM_005271532.1:c.582C>A	XP_005271589.1:p.Cys194Ter
XM_005271533.2:c.579C>A	XP_005271590.1:p.Cys193Ter
XM_011542796.1:c.468C>A	XP_011541098.1:p.Cys156Ter
NM_000190.4:c.633C>A MANE Select	NP_000181.2:p.Cys211Ter
NM_001024382.2:c.582C>A	NP_001019553.1:p.Cys194Ter
XM_005271533.3:c.579C>A	XP_005271590.1:p.Cys193Ter
XM_017017629.1:c.582C>A	XP_016873118.1:p.Cys194Ter
XM_024448460.1:c.579C>A	XP_024304228.1:p.Cys193Ter
NM_001258208.2:c.633C>A	NP_001245137.1:p.Cys211Ter
NM_001258209.2:c.582C>A	NP_001245138.1:p.Cys194Ter