Canonical Allele Identifier: CA382896807

Gene: HMBS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.475G>T	ENSP00000509288.1:p.Ala159Ser
ENST00000691144.1:n.2381G>T
ENST00000691249.1:n.1224G>T
ENST00000442944.7:c.622G>T	ENSP00000392041.3:p.Ala208Ser
ENST00000536813.6:c.589G>T	ENSP00000438726.2:p.Ala197Ser
ENST00000546302.6:c.562G>T	ENSP00000445599.1:p.Ala188Ser
ENST00000640813.1:c.462-252G>T	ENSP00000491061.1:n.462-252G>T
ENST00000648026.1:c.534G>T	ENSP00000498044.1:p.Met178Ile
ENST00000648374.1:c.589G>T	ENSP00000497255.1:p.Ala197Ser
ENST00000648488.1:c.*113G>T	ENSP00000498079.1:n.*113G>T
ENST00000649823.1:n.857G>T
ENST00000650101.1:c.571G>T	ENSP00000496970.1:p.Ala191Ser
ENST00000650307.1:n.1466G>T
ENST00000652429.1:c.640G>T MANE Select	ENSP00000498786.1:p.Ala214Ser
ENST00000278715.7:c.640G>T	ENSP00000278715.3:p.Ala214Ser
ENST00000392841.1:c.589G>T	ENSP00000376584.1:p.Ala197Ser
ENST00000442944.6:c.589G>T	ENSP00000392041.2:p.Ala197Ser
ENST00000537841.5:c.589G>T	ENSP00000444730.1:p.Ala197Ser
ENST00000542044.5:n.1085G>T
ENST00000542345.5:n.778G>T
ENST00000542729.5:c.589G>T	ENSP00000443058.1:p.Ala197Ser
ENST00000543090.5:c.559-252G>T	ENSP00000445429.1:n.559-252G>T
ENST00000543543.5:n.875G>T
ENST00000544182.1:n.615G>T
ENST00000544387.5:c.640G>T	ENSP00000438424.1:p.Ala214Ser
ENST00000545621.5:c.*535G>T	ENSP00000444849.1:n.*535G>T
ENST00000546226.5:n.928G>T
ENST00000546302.5:c.562G>T	ENSP00000445599.1:p.Ala188Ser
NM_000190.3:c.640G>T	NP_000181.2:p.Ala214Ser
NM_001024382.1:c.589G>T	NP_001019553.1:p.Ala197Ser
NM_001258208.1:c.640G>T	NP_001245137.1:p.Ala214Ser
NM_001258209.1:c.589G>T	NP_001245138.1:p.Ala197Ser
XM_005271531.1:c.589G>T	XP_005271588.1:p.Ala197Ser
XM_005271532.1:c.589G>T	XP_005271589.1:p.Ala197Ser
XM_005271533.2:c.586G>T	XP_005271590.1:p.Ala196Ser
XM_011542796.1:c.475G>T	XP_011541098.1:p.Ala159Ser
NM_000190.4:c.640G>T MANE Select	NP_000181.2:p.Ala214Ser
NM_001024382.2:c.589G>T	NP_001019553.1:p.Ala197Ser
XM_005271533.3:c.586G>T	XP_005271590.1:p.Ala196Ser
XM_017017629.1:c.589G>T	XP_016873118.1:p.Ala197Ser
XM_024448460.1:c.586G>T	XP_024304228.1:p.Ala196Ser
NM_001258208.2:c.640G>T	NP_001245137.1:p.Ala214Ser
NM_001258209.2:c.589G>T	NP_001245138.1:p.Ala197Ser