Canonical Allele Identifier: CA2003790916

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092149T= , CM000673.2:g.119092149T=	GRCh38
NC_000011.9:g.118962859T= , CM000673.1:g.118962859T=	GRCh37
NC_000011.8:g.118468069T=	NCBI36
NG_008093.1:g.12273T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.472T=	ENSP00000509288.1:p.Tyr158=
ENST00000691144.1:n.2378T=
ENST00000691249.1:n.1221T=
ENST00000442944.7:c.619T=	ENSP00000392041.3:p.Tyr207=
ENST00000536813.6:c.586T=	ENSP00000438726.2:p.Tyr196=
ENST00000546302.6:c.559T=	ENSP00000445599.1:p.Tyr187=
ENST00000640813.1:c.462-255T=	ENSP00000491061.1:n.462-255T=
ENST00000648026.1:c.531T=	ENSP00000498044.1:p.Cys177=
ENST00000648374.1:c.586T=	ENSP00000497255.1:p.Tyr196=
ENST00000648488.1:c.*110T=	ENSP00000498079.1:n.*110T=
ENST00000649823.1:n.854T=
ENST00000650101.1:c.568T=	ENSP00000496970.1:p.Tyr190=
ENST00000650307.1:n.1463T=
ENST00000652429.1:c.637T= MANE Select	ENSP00000498786.1:p.Tyr213=
ENST00000278715.7:c.637T=	ENSP00000278715.3:p.Tyr213=
ENST00000392841.1:c.586T=	ENSP00000376584.1:p.Tyr196=
ENST00000442944.6:c.586T=	ENSP00000392041.2:p.Tyr196=
ENST00000537841.5:c.586T=	ENSP00000444730.1:p.Tyr196=
ENST00000542044.5:n.1082T=
ENST00000542345.5:n.775T=
ENST00000542729.5:c.586T=	ENSP00000443058.1:p.Tyr196=
ENST00000543090.5:c.559-255T=	ENSP00000445429.1:n.559-255T=
ENST00000543543.5:n.872T=
ENST00000544182.1:n.612T=
ENST00000544387.5:c.637T=	ENSP00000438424.1:p.Tyr213=
ENST00000545621.5:c.*532T=	ENSP00000444849.1:n.*532T=
ENST00000546226.5:n.925T=
ENST00000546302.5:c.559T=	ENSP00000445599.1:p.Tyr187=
NM_000190.3:c.637T=	NP_000181.2:p.Tyr213=
NM_001024382.1:c.586T=	NP_001019553.1:p.Tyr196=
NM_001258208.1:c.637T=	NP_001245137.1:p.Tyr213=
NM_001258209.1:c.586T=	NP_001245138.1:p.Tyr196=
XM_005271531.1:c.586T=	XP_005271588.1:p.Tyr196=
XM_005271532.1:c.586T=	XP_005271589.1:p.Tyr196=
XM_005271533.2:c.583T=	XP_005271590.1:p.Tyr195=
XM_011542796.1:c.472T=	XP_011541098.1:p.Tyr158=
NM_000190.4:c.637T= MANE Select	NP_000181.2:p.Tyr213=
NM_001024382.2:c.586T=	NP_001019553.1:p.Tyr196=
XM_005271533.3:c.583T=	XP_005271590.1:p.Tyr195=
XM_017017629.1:c.586T=	XP_016873118.1:p.Tyr196=
XM_024448460.1:c.583T=	XP_024304228.1:p.Tyr195=
NM_001258208.2:c.637T=	NP_001245137.1:p.Tyr213=
NM_001258209.2:c.586T=	NP_001245138.1:p.Tyr196=