Canonical Allele Identifier: CA477128579

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963192C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092482C>T , CM000673.2:g.119092482C>T	GRCh38
NC_000011.9:g.118963192C>T , CM000673.1:g.118963192C>T	GRCh37
NC_000011.8:g.118468402C>T	NCBI36
NG_008093.1:g.12606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.565C>T	ENSP00000509288.1:p.Leu189=
ENST00000691144.1:n.2711C>T
ENST00000691249.1:n.1554C>T
ENST00000442944.7:c.712C>T	ENSP00000392041.3:p.Leu238=
ENST00000536813.6:c.679C>T	ENSP00000438726.2:p.Leu227=
ENST00000640813.1:c.540C>T	ENSP00000491061.1:p.Leu180=
ENST00000648026.1:c.624C>T	ENSP00000498044.1:p.Leu208=
ENST00000648374.1:c.679C>T	ENSP00000497255.1:p.Leu227=
ENST00000649823.1:n.1187C>T
ENST00000650101.1:c.661C>T	ENSP00000496970.1:p.Leu221=
ENST00000650307.1:n.1556C>T
ENST00000652429.1:c.730C>T MANE Select	ENSP00000498786.1:p.Leu244=
ENST00000278715.7:c.730C>T	ENSP00000278715.3:p.Leu244=
ENST00000392841.1:c.679C>T	ENSP00000376584.1:p.Leu227=
ENST00000442944.6:c.679C>T	ENSP00000392041.2:p.Leu227=
ENST00000537841.5:c.679C>T	ENSP00000444730.1:p.Leu227=
ENST00000542044.5:n.1175C>T
ENST00000542729.5:c.601-276C>T	ENSP00000443058.1:n.601-276C>T
ENST00000543090.5:c.637C>T	ENSP00000445429.1:p.Leu213=
ENST00000543543.5:n.1205C>T
ENST00000544182.1:n.945C>T
ENST00000544387.5:c.652-276C>T	ENSP00000438424.1:n.652-276C>T
ENST00000545621.5:c.*865C>T	ENSP00000444849.1:n.*865C>T
ENST00000546226.5:n.1258C>T
NM_000190.3:c.730C>T	NP_000181.2:p.Leu244=
NM_001024382.1:c.679C>T	NP_001019553.1:p.Leu227=
NM_001258208.1:c.652-276C>T	NP_001245137.1:n.652-276C>T
NM_001258209.1:c.601-276C>T	NP_001245138.1:n.601-276C>T
XM_005271531.1:c.679C>T	XP_005271588.1:p.Leu227=
XM_005271532.1:c.679C>T	XP_005271589.1:p.Leu227=
XM_005271533.2:c.676C>T	XP_005271590.1:p.Leu226=
XM_011542796.1:c.565C>T	XP_011541098.1:p.Leu189=
NM_000190.4:c.730C>T MANE Select	NP_000181.2:p.Leu244=
NM_001024382.2:c.679C>T	NP_001019553.1:p.Leu227=
XM_005271533.3:c.676C>T	XP_005271590.1:p.Leu226=
XM_017017629.1:c.679C>T	XP_016873118.1:p.Leu227=
XM_024448460.1:c.598-276C>T	XP_024304228.1:n.598-276C>T
NM_001258208.2:c.652-276C>T	NP_001245137.1:n.652-276C>T
NM_001258209.2:c.601-276C>T	NP_001245138.1:n.601-276C>T