Canonical Allele Identifier: CA382898949

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093007-C-A
• MyVariant Identifiers: chr11:g.118963717C>A (hg19) ; chr11:g.119093007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093007C>A , CM000673.2:g.119093007C>A	GRCh38
NC_000011.9:g.118963717C>A , CM000673.1:g.118963717C>A	GRCh37
NC_000011.8:g.118468927C>A	NCBI36
NG_008093.1:g.13131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.733C>A	ENSP00000509288.1:p.His245Asn
ENST00000691144.1:n.3113C>A
ENST00000691249.1:n.1722C>A
ENST00000442944.7:c.880C>A	ENSP00000392041.3:p.His294Asn
ENST00000640813.1:c.*135C>A	ENSP00000491061.1:n.*135C>A
ENST00000648026.1:c.792C>A	ENSP00000498044.1:n.792C>A
ENST00000648374.1:c.847C>A	ENSP00000497255.1:p.His283Asn
ENST00000650101.1:c.829C>A	ENSP00000496970.1:p.His277Asn
ENST00000650307.1:n.1724C>A
ENST00000652429.1:c.898C>A MANE Select	ENSP00000498786.1:p.His300Asn
ENST00000278715.7:c.898C>A	ENSP00000278715.3:p.His300Asn
ENST00000392841.1:c.847C>A	ENSP00000376584.1:p.His283Asn
ENST00000442944.6:c.847C>A	ENSP00000392041.2:p.His283Asn
ENST00000537841.5:c.847C>A	ENSP00000444730.1:p.His283Asn
ENST00000539045.1:n.397C>A
ENST00000542044.5:n.1343C>A
ENST00000542729.5:c.727C>A	ENSP00000443058.1:p.His243Asn
ENST00000543090.5:c.805C>A	ENSP00000445429.1:p.His269Asn
ENST00000543543.5:n.1373C>A
ENST00000544182.1:n.1347C>A
ENST00000544387.5:c.778C>A	ENSP00000438424.1:p.His260Asn
ENST00000546226.5:n.1660C>A
NM_000190.3:c.898C>A	NP_000181.2:p.His300Asn
NM_001024382.1:c.847C>A	NP_001019553.1:p.His283Asn
NM_001258208.1:c.778C>A	NP_001245137.1:p.His260Asn
NM_001258209.1:c.727C>A	NP_001245138.1:p.His243Asn
XM_005271531.1:c.847C>A	XP_005271588.1:p.His283Asn
XM_005271532.1:c.847C>A	XP_005271589.1:p.His283Asn
XM_005271533.2:c.844C>A	XP_005271590.1:p.His282Asn
XM_011542796.1:c.733C>A	XP_011541098.1:p.His245Asn
NM_000190.4:c.898C>A MANE Select	NP_000181.2:p.His300Asn
NM_001024382.2:c.847C>A	NP_001019553.1:p.His283Asn
XM_005271533.3:c.844C>A	XP_005271590.1:p.His282Asn
XM_017017629.1:c.847C>A	XP_016873118.1:p.His283Asn
XM_024448460.1:c.724C>A	XP_024304228.1:p.His242Asn
NM_001258208.2:c.778C>A	NP_001245137.1:p.His260Asn
NM_001258209.2:c.727C>A	NP_001245138.1:p.His243Asn