Canonical Allele Identifier: CA6314290

Gene: HMBS

Linked Data

• dbSNP Id: rs757013271
• ExAC: 11:118963855 A / T
• MyVariant Identifiers: chr11:g.118963855A>T (hg19) ; chr11:g.119093145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093145A>T , CM000673.2:g.119093145A>T	GRCh38
NC_000011.9:g.118963855A>T , CM000673.1:g.118963855A>T	GRCh37
NC_000011.8:g.118469065A>T	NCBI36
NG_008093.1:g.13269A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.783A>T	ENSP00000509288.1:p.Val261=
ENST00000691144.1:n.3163A>T
ENST00000691249.1:n.1772A>T
ENST00000442944.7:c.930A>T	ENSP00000392041.3:p.Val310=
ENST00000640813.1:c.*185A>T	ENSP00000491061.1:n.*185A>T
ENST00000648026.1:c.842A>T	ENSP00000498044.1:n.842A>T
ENST00000648374.1:c.897A>T	ENSP00000497255.1:p.Val299=
ENST00000650101.1:c.879A>T	ENSP00000496970.1:p.Val293=
ENST00000650307.1:n.1774A>T
ENST00000652429.1:c.948A>T MANE Select	ENSP00000498786.1:p.Val316=
ENST00000278715.7:c.948A>T	ENSP00000278715.3:p.Val316=
ENST00000392841.1:c.897A>T	ENSP00000376584.1:p.Val299=
ENST00000442944.6:c.897A>T	ENSP00000392041.2:p.Val299=
ENST00000537841.5:c.897A>T	ENSP00000444730.1:p.Val299=
ENST00000539045.1:n.447A>T
ENST00000542044.5:n.1393A>T
ENST00000542729.5:c.777A>T	ENSP00000443058.1:p.Val259=
ENST00000543090.5:c.855A>T	ENSP00000445429.1:p.Val285=
ENST00000543543.5:n.1423A>T
ENST00000544182.1:n.1397A>T
ENST00000544387.5:c.828A>T	ENSP00000438424.1:p.Val276=
ENST00000546226.5:n.1710A>T
NM_000190.3:c.948A>T	NP_000181.2:p.Val316=
NM_001024382.1:c.897A>T	NP_001019553.1:p.Val299=
NM_001258208.1:c.828A>T	NP_001245137.1:p.Val276=
NM_001258209.1:c.777A>T	NP_001245138.1:p.Val259=
XM_005271531.1:c.897A>T	XP_005271588.1:p.Val299=
XM_005271532.1:c.897A>T	XP_005271589.1:p.Val299=
XM_005271533.2:c.894A>T	XP_005271590.1:p.Val298=
XM_011542796.1:c.783A>T	XP_011541098.1:p.Val261=
NM_000190.4:c.948A>T MANE Select	NP_000181.2:p.Val316=
NM_001024382.2:c.897A>T	NP_001019553.1:p.Val299=
XM_005271533.3:c.894A>T	XP_005271590.1:p.Val298=
XM_017017629.1:c.897A>T	XP_016873118.1:p.Val299=
XM_024448460.1:c.774A>T	XP_024304228.1:p.Val258=
NM_001258208.2:c.828A>T	NP_001245137.1:p.Val276=
NM_001258209.2:c.777A>T	NP_001245138.1:p.Val259=