Canonical Allele Identifier: CA382897061

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092407G>C , CM000673.2:g.119092407G>C	GRCh38
NC_000011.9:g.118963117G>C , CM000673.1:g.118963117G>C	GRCh37
NC_000011.8:g.118468327G>C	NCBI36
NG_008093.1:g.12531G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000190.4:c.655G>C MANE Select	NP_000181.2:p.Ala219Pro
ENST00000652429.1:c.655G>C MANE Select	ENSP00000498786.1:p.Ala219Pro
NM_000190.3:c.655G>C	NP_000181.2:p.Ala219Pro
NM_001024382.1:c.604G>C	NP_001019553.1:p.Ala202Pro
NM_001024382.2:c.604G>C	NP_001019553.1:p.Ala202Pro
NM_001258208.1:c.651+244G>C	NP_001245137.1:n.651+244G>C
NM_001258208.2:c.651+244G>C	NP_001245137.1:n.651+244G>C
NM_001258209.1:c.600+244G>C	NP_001245138.1:n.600+244G>C
NM_001258209.2:c.600+244G>C	NP_001245138.1:n.600+244G>C
ENST00000278715.7:c.655G>C	ENSP00000278715.3:p.Ala219Pro
ENST00000392841.1:c.604G>C	ENSP00000376584.1:p.Ala202Pro
ENST00000442944.6:c.604G>C	ENSP00000392041.2:p.Ala202Pro
ENST00000442944.7:c.637G>C	ENSP00000392041.3:p.Ala213Pro
ENST00000536813.6:c.604G>C	ENSP00000438726.2:p.Ala202Pro
ENST00000537841.5:c.604G>C	ENSP00000444730.1:p.Ala202Pro
ENST00000542044.5:n.1100G>C
ENST00000542729.5:c.600+244G>C	ENSP00000443058.1:n.600+244G>C
ENST00000543090.5:c.562G>C	ENSP00000445429.1:p.Ala188Pro
ENST00000543543.5:n.1130G>C
ENST00000544182.1:n.870G>C
ENST00000544387.5:c.651+244G>C	ENSP00000438424.1:n.651+244G>C
ENST00000545621.5:c.*790G>C	ENSP00000444849.1:n.*790G>C
ENST00000546226.5:n.1183G>C
ENST00000640813.1:c.465G>C	ENSP00000491061.1:p.Gly155=
ENST00000648026.1:c.549G>C	ENSP00000498044.1:p.Gly183=
ENST00000648374.1:c.604G>C	ENSP00000497255.1:p.Ala202Pro
ENST00000649823.1:n.1112G>C
ENST00000650101.1:c.586G>C	ENSP00000496970.1:p.Ala196Pro
ENST00000650307.1:n.1481G>C
ENST00000686218.1:c.490G>C	ENSP00000509288.1:p.Ala164Pro
ENST00000691144.1:n.2636G>C
ENST00000691249.1:n.1479G>C
XM_005271531.1:c.604G>C	XP_005271588.1:p.Ala202Pro
XM_005271532.1:c.604G>C	XP_005271589.1:p.Ala202Pro
XM_005271533.2:c.601G>C	XP_005271590.1:p.Ala201Pro
XM_005271533.3:c.601G>C	XP_005271590.1:p.Ala201Pro
XM_011542796.1:c.490G>C	XP_011541098.1:p.Ala164Pro
XM_017017629.1:c.604G>C	XP_016873118.1:p.Ala202Pro
XM_024448460.1:c.597+244G>C	XP_024304228.1:n.597+244G>C