Canonical Allele Identifier: CA382897991

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963219T>G (hg19) ; chr11:g.119092509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092509T>G , CM000673.2:g.119092509T>G	GRCh38
NC_000011.9:g.118963219T>G , CM000673.1:g.118963219T>G	GRCh37
NC_000011.8:g.118468429T>G	NCBI36
NG_008093.1:g.12633T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.592T>G	ENSP00000509288.1:p.Phe198Val
ENST00000691144.1:n.2738T>G
ENST00000691249.1:n.1581T>G
ENST00000442944.7:c.739T>G	ENSP00000392041.3:p.Phe247Val
ENST00000640813.1:c.567T>G	ENSP00000491061.1:p.Pro189=
ENST00000648026.1:c.651T>G	ENSP00000498044.1:p.Pro217=
ENST00000648374.1:c.706T>G	ENSP00000497255.1:p.Phe236Val
ENST00000649823.1:n.1214T>G
ENST00000650101.1:c.688T>G	ENSP00000496970.1:p.Phe230Val
ENST00000650307.1:n.1583T>G
ENST00000652429.1:c.757T>G MANE Select	ENSP00000498786.1:p.Phe253Val
ENST00000278715.7:c.757T>G	ENSP00000278715.3:p.Phe253Val
ENST00000392841.1:c.706T>G	ENSP00000376584.1:p.Phe236Val
ENST00000442944.6:c.706T>G	ENSP00000392041.2:p.Phe236Val
ENST00000537841.5:c.706T>G	ENSP00000444730.1:p.Phe236Val
ENST00000542044.5:n.1202T>G
ENST00000542729.5:c.601-249T>G	ENSP00000443058.1:n.601-249T>G
ENST00000543090.5:c.664T>G	ENSP00000445429.1:p.Phe222Val
ENST00000543543.5:n.1232T>G
ENST00000544182.1:n.972T>G
ENST00000544387.5:c.652-249T>G	ENSP00000438424.1:n.652-249T>G
ENST00000546226.5:n.1285T>G
NM_000190.3:c.757T>G	NP_000181.2:p.Phe253Val
NM_001024382.1:c.706T>G	NP_001019553.1:p.Phe236Val
NM_001258208.1:c.652-249T>G	NP_001245137.1:n.652-249T>G
NM_001258209.1:c.601-249T>G	NP_001245138.1:n.601-249T>G
XM_005271531.1:c.706T>G	XP_005271588.1:p.Phe236Val
XM_005271532.1:c.706T>G	XP_005271589.1:p.Phe236Val
XM_005271533.2:c.703T>G	XP_005271590.1:p.Phe235Val
XM_011542796.1:c.592T>G	XP_011541098.1:p.Phe198Val
NM_000190.4:c.757T>G MANE Select	NP_000181.2:p.Phe253Val
NM_001024382.2:c.706T>G	NP_001019553.1:p.Phe236Val
XM_005271533.3:c.703T>G	XP_005271590.1:p.Phe235Val
XM_017017629.1:c.706T>G	XP_016873118.1:p.Phe236Val
XM_024448460.1:c.598-249T>G	XP_024304228.1:n.598-249T>G
NM_001258208.2:c.652-249T>G	NP_001245137.1:n.652-249T>G
NM_001258209.2:c.601-249T>G	NP_001245138.1:n.601-249T>G