Canonical Allele Identifier: CA477127278

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963164G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092454G>C , CM000673.2:g.119092454G>C	GRCh38
NC_000011.9:g.118963164G>C , CM000673.1:g.118963164G>C	GRCh37
NC_000011.8:g.118468374G>C	NCBI36
NG_008093.1:g.12578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.537G>C	ENSP00000509288.1:p.Leu179=
ENST00000691144.1:n.2683G>C
ENST00000691249.1:n.1526G>C
ENST00000442944.7:c.684G>C	ENSP00000392041.3:p.Leu228=
ENST00000536813.6:c.651G>C	ENSP00000438726.2:p.Leu217=
ENST00000640813.1:c.512G>C	ENSP00000491061.1:p.Trp171Ser
ENST00000648026.1:c.596G>C	ENSP00000498044.1:p.Trp199Ser
ENST00000648374.1:c.651G>C	ENSP00000497255.1:p.Leu217=
ENST00000649823.1:n.1159G>C
ENST00000650101.1:c.633G>C	ENSP00000496970.1:p.Leu211=
ENST00000650307.1:n.1528G>C
ENST00000652429.1:c.702G>C MANE Select	ENSP00000498786.1:p.Leu234=
ENST00000278715.7:c.702G>C	ENSP00000278715.3:p.Leu234=
ENST00000392841.1:c.651G>C	ENSP00000376584.1:p.Leu217=
ENST00000442944.6:c.651G>C	ENSP00000392041.2:p.Leu217=
ENST00000537841.5:c.651G>C	ENSP00000444730.1:p.Leu217=
ENST00000542044.5:n.1147G>C
ENST00000542729.5:c.600+291G>C	ENSP00000443058.1:n.600+291G>C
ENST00000543090.5:c.609G>C	ENSP00000445429.1:p.Leu203=
ENST00000543543.5:n.1177G>C
ENST00000544182.1:n.917G>C
ENST00000544387.5:c.651+291G>C	ENSP00000438424.1:n.651+291G>C
ENST00000545621.5:c.*837G>C	ENSP00000444849.1:n.*837G>C
ENST00000546226.5:n.1230G>C
NM_000190.3:c.702G>C	NP_000181.2:p.Leu234=
NM_001024382.1:c.651G>C	NP_001019553.1:p.Leu217=
NM_001258208.1:c.651+291G>C	NP_001245137.1:n.651+291G>C
NM_001258209.1:c.600+291G>C	NP_001245138.1:n.600+291G>C
XM_005271531.1:c.651G>C	XP_005271588.1:p.Leu217=
XM_005271532.1:c.651G>C	XP_005271589.1:p.Leu217=
XM_005271533.2:c.648G>C	XP_005271590.1:p.Leu216=
XM_011542796.1:c.537G>C	XP_011541098.1:p.Leu179=
NM_000190.4:c.702G>C MANE Select	NP_000181.2:p.Leu234=
NM_001024382.2:c.651G>C	NP_001019553.1:p.Leu217=
XM_005271533.3:c.648G>C	XP_005271590.1:p.Leu216=
XM_017017629.1:c.651G>C	XP_016873118.1:p.Leu217=
XM_024448460.1:c.597+291G>C	XP_024304228.1:n.597+291G>C
NM_001258208.2:c.651+291G>C	NP_001245137.1:n.651+291G>C
NM_001258209.2:c.600+291G>C	NP_001245138.1:n.600+291G>C