Canonical Allele Identifier: CA382889807

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118959948A>C (hg19) ; chr11:g.119089238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089238A>C , CM000673.2:g.119089238A>C	GRCh38
NC_000011.9:g.118959948A>C , CM000673.1:g.118959948A>C	GRCh37
NC_000011.8:g.118465158A>C	NCBI36
NG_008093.1:g.9362A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.67A>C	ENSP00000509288.1:p.Thr23Pro
ENST00000686690.1:n.853A>C
ENST00000691144.1:n.1973A>C
ENST00000691249.1:n.816A>C
ENST00000442944.7:c.214A>C	ENSP00000392041.3:p.Thr72Pro
ENST00000534956.2:n.181A>C
ENST00000536813.6:c.181A>C	ENSP00000438726.2:p.Thr61Pro
ENST00000546302.6:c.232A>C	ENSP00000445599.1:p.Thr78Pro
ENST00000640813.1:c.181A>C	ENSP00000491061.1:p.Thr61Pro
ENST00000648026.1:c.226A>C	ENSP00000498044.1:p.Thr76Pro
ENST00000648374.1:c.181A>C	ENSP00000497255.1:p.Thr61Pro
ENST00000648488.1:c.181A>C	ENSP00000498079.1:p.Thr61Pro
ENST00000649823.1:n.449A>C
ENST00000649868.1:c.87A>C	ENSP00000497548.1:p.Leu29Phe
ENST00000650101.1:c.163A>C	ENSP00000496970.1:p.Thr55Pro
ENST00000650307.1:n.1058A>C
ENST00000652429.1:c.232A>C MANE Select	ENSP00000498786.1:p.Thr78Pro
ENST00000278715.7:c.232A>C	ENSP00000278715.3:p.Thr78Pro
ENST00000392841.1:c.181A>C	ENSP00000376584.1:p.Thr61Pro
ENST00000442944.6:c.181A>C	ENSP00000392041.2:p.Thr61Pro
ENST00000534956.1:n.148A>C
ENST00000535253.5:c.181A>C	ENSP00000442079.1:p.Thr61Pro
ENST00000535793.5:c.*127A>C	ENSP00000439904.1:n.*127A>C
ENST00000536185.5:n.350A>C
ENST00000536813.5:c.214A>C	ENSP00000438726.1:p.Thr72Pro
ENST00000537841.5:c.181A>C	ENSP00000444730.1:p.Thr61Pro
ENST00000539986.5:c.181A>C	ENSP00000440092.1:p.Thr61Pro
ENST00000542044.5:n.677A>C
ENST00000542345.5:n.370A>C
ENST00000542729.5:c.181A>C	ENSP00000443058.1:p.Thr61Pro
ENST00000542822.5:c.*168A>C	ENSP00000444817.1:n.*168A>C
ENST00000543090.5:c.178A>C	ENSP00000445429.1:p.Thr60Pro
ENST00000543543.5:n.467A>C
ENST00000543821.5:n.378A>C
ENST00000544360.5:n.200A>C
ENST00000544387.5:c.232A>C	ENSP00000438424.1:p.Thr78Pro
ENST00000545621.5:c.*127A>C	ENSP00000444849.1:n.*127A>C
ENST00000546226.5:n.291A>C
ENST00000546302.5:c.232A>C	ENSP00000445599.1:p.Thr78Pro
NM_000190.3:c.232A>C	NP_000181.2:p.Thr78Pro
NM_001024382.1:c.181A>C	NP_001019553.1:p.Thr61Pro
NM_001258208.1:c.232A>C	NP_001245137.1:p.Thr78Pro
NM_001258209.1:c.181A>C	NP_001245138.1:p.Thr61Pro
XM_005271531.1:c.181A>C	XP_005271588.1:p.Thr61Pro
XM_005271532.1:c.181A>C	XP_005271589.1:p.Thr61Pro
XM_005271533.2:c.178A>C	XP_005271590.1:p.Thr60Pro
XM_011542796.1:c.67A>C	XP_011541098.1:p.Thr23Pro
NM_000190.4:c.232A>C MANE Select	NP_000181.2:p.Thr78Pro
NM_001024382.2:c.181A>C	NP_001019553.1:p.Thr61Pro
XM_005271533.3:c.178A>C	XP_005271590.1:p.Thr60Pro
XM_017017629.1:c.181A>C	XP_016873118.1:p.Thr61Pro
XM_024448460.1:c.178A>C	XP_024304228.1:p.Thr60Pro
NM_001258208.2:c.232A>C	NP_001245137.1:p.Thr78Pro
NM_001258209.2:c.181A>C	NP_001245138.1:p.Thr61Pro