Canonical Allele Identifier: CA382897541

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963165G>C (hg19) ; chr11:g.119092455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092455G>C , CM000673.2:g.119092455G>C	GRCh38
NC_000011.9:g.118963165G>C , CM000673.1:g.118963165G>C	GRCh37
NC_000011.8:g.118468375G>C	NCBI36
NG_008093.1:g.12579G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.538G>C	ENSP00000509288.1:p.Val180Leu
ENST00000691144.1:n.2684G>C
ENST00000691249.1:n.1527G>C
ENST00000442944.7:c.685G>C	ENSP00000392041.3:p.Val229Leu
ENST00000536813.6:c.652G>C	ENSP00000438726.2:p.Val218Leu
ENST00000640813.1:c.513G>C	ENSP00000491061.1:p.Trp171Cys
ENST00000648026.1:c.597G>C	ENSP00000498044.1:p.Trp199Cys
ENST00000648374.1:c.652G>C	ENSP00000497255.1:p.Val218Leu
ENST00000649823.1:n.1160G>C
ENST00000650101.1:c.634G>C	ENSP00000496970.1:p.Val212Leu
ENST00000650307.1:n.1529G>C
ENST00000652429.1:c.703G>C MANE Select	ENSP00000498786.1:p.Val235Leu
ENST00000278715.7:c.703G>C	ENSP00000278715.3:p.Val235Leu
ENST00000392841.1:c.652G>C	ENSP00000376584.1:p.Val218Leu
ENST00000442944.6:c.652G>C	ENSP00000392041.2:p.Val218Leu
ENST00000537841.5:c.652G>C	ENSP00000444730.1:p.Val218Leu
ENST00000542044.5:n.1148G>C
ENST00000542729.5:c.600+292G>C	ENSP00000443058.1:n.600+292G>C
ENST00000543090.5:c.610G>C	ENSP00000445429.1:p.Val204Leu
ENST00000543543.5:n.1178G>C
ENST00000544182.1:n.918G>C
ENST00000544387.5:c.651+292G>C	ENSP00000438424.1:n.651+292G>C
ENST00000545621.5:c.*838G>C	ENSP00000444849.1:n.*838G>C
ENST00000546226.5:n.1231G>C
NM_000190.3:c.703G>C	NP_000181.2:p.Val235Leu
NM_001024382.1:c.652G>C	NP_001019553.1:p.Val218Leu
NM_001258208.1:c.651+292G>C	NP_001245137.1:n.651+292G>C
NM_001258209.1:c.600+292G>C	NP_001245138.1:n.600+292G>C
XM_005271531.1:c.652G>C	XP_005271588.1:p.Val218Leu
XM_005271532.1:c.652G>C	XP_005271589.1:p.Val218Leu
XM_005271533.2:c.649G>C	XP_005271590.1:p.Val217Leu
XM_011542796.1:c.538G>C	XP_011541098.1:p.Val180Leu
NM_000190.4:c.703G>C MANE Select	NP_000181.2:p.Val235Leu
NM_001024382.2:c.652G>C	NP_001019553.1:p.Val218Leu
XM_005271533.3:c.649G>C	XP_005271590.1:p.Val217Leu
XM_017017629.1:c.652G>C	XP_016873118.1:p.Val218Leu
XM_024448460.1:c.597+292G>C	XP_024304228.1:n.597+292G>C
NM_001258208.2:c.651+292G>C	NP_001245137.1:n.651+292G>C
NM_001258209.2:c.600+292G>C	NP_001245138.1:n.600+292G>C