Canonical Allele Identifier: CA382896801

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118962862G>A (hg19) ; chr11:g.119092152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092152G>A , CM000673.2:g.119092152G>A	GRCh38
NC_000011.9:g.118962862G>A , CM000673.1:g.118962862G>A	GRCh37
NC_000011.8:g.118468072G>A	NCBI36
NG_008093.1:g.12276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.475G>A	ENSP00000509288.1:p.Ala159Thr
ENST00000691144.1:n.2381G>A
ENST00000691249.1:n.1224G>A
ENST00000442944.7:c.622G>A	ENSP00000392041.3:p.Ala208Thr
ENST00000536813.6:c.589G>A	ENSP00000438726.2:p.Ala197Thr
ENST00000546302.6:c.562G>A	ENSP00000445599.1:p.Ala188Thr
ENST00000640813.1:c.462-252G>A	ENSP00000491061.1:n.462-252G>A
ENST00000648026.1:c.534G>A	ENSP00000498044.1:p.Met178Ile
ENST00000648374.1:c.589G>A	ENSP00000497255.1:p.Ala197Thr
ENST00000648488.1:c.*113G>A	ENSP00000498079.1:n.*113G>A
ENST00000649823.1:n.857G>A
ENST00000650101.1:c.571G>A	ENSP00000496970.1:p.Ala191Thr
ENST00000650307.1:n.1466G>A
ENST00000652429.1:c.640G>A MANE Select	ENSP00000498786.1:p.Ala214Thr
ENST00000278715.7:c.640G>A	ENSP00000278715.3:p.Ala214Thr
ENST00000392841.1:c.589G>A	ENSP00000376584.1:p.Ala197Thr
ENST00000442944.6:c.589G>A	ENSP00000392041.2:p.Ala197Thr
ENST00000537841.5:c.589G>A	ENSP00000444730.1:p.Ala197Thr
ENST00000542044.5:n.1085G>A
ENST00000542345.5:n.778G>A
ENST00000542729.5:c.589G>A	ENSP00000443058.1:p.Ala197Thr
ENST00000543090.5:c.559-252G>A	ENSP00000445429.1:n.559-252G>A
ENST00000543543.5:n.875G>A
ENST00000544182.1:n.615G>A
ENST00000544387.5:c.640G>A	ENSP00000438424.1:p.Ala214Thr
ENST00000545621.5:c.*535G>A	ENSP00000444849.1:n.*535G>A
ENST00000546226.5:n.928G>A
ENST00000546302.5:c.562G>A	ENSP00000445599.1:p.Ala188Thr
NM_000190.3:c.640G>A	NP_000181.2:p.Ala214Thr
NM_001024382.1:c.589G>A	NP_001019553.1:p.Ala197Thr
NM_001258208.1:c.640G>A	NP_001245137.1:p.Ala214Thr
NM_001258209.1:c.589G>A	NP_001245138.1:p.Ala197Thr
XM_005271531.1:c.589G>A	XP_005271588.1:p.Ala197Thr
XM_005271532.1:c.589G>A	XP_005271589.1:p.Ala197Thr
XM_005271533.2:c.586G>A	XP_005271590.1:p.Ala196Thr
XM_011542796.1:c.475G>A	XP_011541098.1:p.Ala159Thr
NM_000190.4:c.640G>A MANE Select	NP_000181.2:p.Ala214Thr
NM_001024382.2:c.589G>A	NP_001019553.1:p.Ala197Thr
XM_005271533.3:c.586G>A	XP_005271590.1:p.Ala196Thr
XM_017017629.1:c.589G>A	XP_016873118.1:p.Ala197Thr
XM_024448460.1:c.586G>A	XP_024304228.1:p.Ala196Thr
NM_001258208.2:c.640G>A	NP_001245137.1:p.Ala214Thr
NM_001258209.2:c.589G>A	NP_001245138.1:p.Ala197Thr