Canonical Allele Identifier: CA382897449

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963153A>T (hg19) ; chr11:g.119092443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092443A>T , CM000673.2:g.119092443A>T	GRCh38
NC_000011.9:g.118963153A>T , CM000673.1:g.118963153A>T	GRCh37
NC_000011.8:g.118468363A>T	NCBI36
NG_008093.1:g.12567A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.526A>T	ENSP00000509288.1:p.Ile176Phe
ENST00000691144.1:n.2672A>T
ENST00000691249.1:n.1515A>T
ENST00000442944.7:c.673A>T	ENSP00000392041.3:p.Ile225Phe
ENST00000536813.6:c.640A>T	ENSP00000438726.2:p.Ile214Phe
ENST00000640813.1:c.501A>T	ENSP00000491061.1:p.Thr167=
ENST00000648026.1:c.585A>T	ENSP00000498044.1:p.Thr195=
ENST00000648374.1:c.640A>T	ENSP00000497255.1:p.Ile214Phe
ENST00000649823.1:n.1148A>T
ENST00000650101.1:c.622A>T	ENSP00000496970.1:p.Ile208Phe
ENST00000650307.1:n.1517A>T
ENST00000652429.1:c.691A>T MANE Select	ENSP00000498786.1:p.Ile231Phe
ENST00000278715.7:c.691A>T	ENSP00000278715.3:p.Ile231Phe
ENST00000392841.1:c.640A>T	ENSP00000376584.1:p.Ile214Phe
ENST00000442944.6:c.640A>T	ENSP00000392041.2:p.Ile214Phe
ENST00000537841.5:c.640A>T	ENSP00000444730.1:p.Ile214Phe
ENST00000542044.5:n.1136A>T
ENST00000542729.5:c.600+280A>T	ENSP00000443058.1:n.600+280A>T
ENST00000543090.5:c.598A>T	ENSP00000445429.1:p.Ile200Phe
ENST00000543543.5:n.1166A>T
ENST00000544182.1:n.906A>T
ENST00000544387.5:c.651+280A>T	ENSP00000438424.1:n.651+280A>T
ENST00000545621.5:c.*826A>T	ENSP00000444849.1:n.*826A>T
ENST00000546226.5:n.1219A>T
NM_000190.3:c.691A>T	NP_000181.2:p.Ile231Phe
NM_001024382.1:c.640A>T	NP_001019553.1:p.Ile214Phe
NM_001258208.1:c.651+280A>T	NP_001245137.1:n.651+280A>T
NM_001258209.1:c.600+280A>T	NP_001245138.1:n.600+280A>T
XM_005271531.1:c.640A>T	XP_005271588.1:p.Ile214Phe
XM_005271532.1:c.640A>T	XP_005271589.1:p.Ile214Phe
XM_005271533.2:c.637A>T	XP_005271590.1:p.Ile213Phe
XM_011542796.1:c.526A>T	XP_011541098.1:p.Ile176Phe
NM_000190.4:c.691A>T MANE Select	NP_000181.2:p.Ile231Phe
NM_001024382.2:c.640A>T	NP_001019553.1:p.Ile214Phe
XM_005271533.3:c.637A>T	XP_005271590.1:p.Ile213Phe
XM_017017629.1:c.640A>T	XP_016873118.1:p.Ile214Phe
XM_024448460.1:c.597+280A>T	XP_024304228.1:n.597+280A>T
NM_001258208.2:c.651+280A>T	NP_001245137.1:n.651+280A>T
NM_001258209.2:c.600+280A>T	NP_001245138.1:n.600+280A>T