Canonical Allele Identifier: CA382897989

Gene: HMBS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.592T>C	ENSP00000509288.1:p.Phe198Leu
ENST00000691144.1:n.2738T>C
ENST00000691249.1:n.1581T>C
ENST00000442944.7:c.739T>C	ENSP00000392041.3:p.Phe247Leu
ENST00000640813.1:c.567T>C	ENSP00000491061.1:p.Pro189=
ENST00000648026.1:c.651T>C	ENSP00000498044.1:p.Pro217=
ENST00000648374.1:c.706T>C	ENSP00000497255.1:p.Phe236Leu
ENST00000649823.1:n.1214T>C
ENST00000650101.1:c.688T>C	ENSP00000496970.1:p.Phe230Leu
ENST00000650307.1:n.1583T>C
ENST00000652429.1:c.757T>C MANE Select	ENSP00000498786.1:p.Phe253Leu
ENST00000278715.7:c.757T>C	ENSP00000278715.3:p.Phe253Leu
ENST00000392841.1:c.706T>C	ENSP00000376584.1:p.Phe236Leu
ENST00000442944.6:c.706T>C	ENSP00000392041.2:p.Phe236Leu
ENST00000537841.5:c.706T>C	ENSP00000444730.1:p.Phe236Leu
ENST00000542044.5:n.1202T>C
ENST00000542729.5:c.601-249T>C	ENSP00000443058.1:n.601-249T>C
ENST00000543090.5:c.664T>C	ENSP00000445429.1:p.Phe222Leu
ENST00000543543.5:n.1232T>C
ENST00000544182.1:n.972T>C
ENST00000544387.5:c.652-249T>C	ENSP00000438424.1:n.652-249T>C
ENST00000546226.5:n.1285T>C
NM_000190.3:c.757T>C	NP_000181.2:p.Phe253Leu
NM_001024382.1:c.706T>C	NP_001019553.1:p.Phe236Leu
NM_001258208.1:c.652-249T>C	NP_001245137.1:n.652-249T>C
NM_001258209.1:c.601-249T>C	NP_001245138.1:n.601-249T>C
XM_005271531.1:c.706T>C	XP_005271588.1:p.Phe236Leu
XM_005271532.1:c.706T>C	XP_005271589.1:p.Phe236Leu
XM_005271533.2:c.703T>C	XP_005271590.1:p.Phe235Leu
XM_011542796.1:c.592T>C	XP_011541098.1:p.Phe198Leu
NM_000190.4:c.757T>C MANE Select	NP_000181.2:p.Phe253Leu
NM_001024382.2:c.706T>C	NP_001019553.1:p.Phe236Leu
XM_005271533.3:c.703T>C	XP_005271590.1:p.Phe235Leu
XM_017017629.1:c.706T>C	XP_016873118.1:p.Phe236Leu
XM_024448460.1:c.598-249T>C	XP_024304228.1:n.598-249T>C
NM_001258208.2:c.652-249T>C	NP_001245137.1:n.652-249T>C
NM_001258209.2:c.601-249T>C	NP_001245138.1:n.601-249T>C