Canonical Allele Identifier: CA477369293

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963867T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093157T>G , CM000673.2:g.119093157T>G	GRCh38
NC_000011.9:g.118963867T>G , CM000673.1:g.118963867T>G	GRCh37
NC_000011.8:g.118469077T>G	NCBI36
NG_008093.1:g.13281T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.795T>G	ENSP00000509288.1:p.Ala265=
ENST00000691144.1:n.3175T>G
ENST00000691249.1:n.1784T>G
ENST00000442944.7:c.942T>G	ENSP00000392041.3:p.Ala314=
ENST00000640813.1:c.*197T>G	ENSP00000491061.1:n.*197T>G
ENST00000648026.1:c.854T>G	ENSP00000498044.1:n.854T>G
ENST00000648374.1:c.909T>G	ENSP00000497255.1:p.Ala303=
ENST00000650101.1:c.891T>G	ENSP00000496970.1:p.Ala297=
ENST00000650307.1:n.1786T>G
ENST00000652429.1:c.960T>G MANE Select	ENSP00000498786.1:p.Ala320=
ENST00000278715.7:c.960T>G	ENSP00000278715.3:p.Ala320=
ENST00000392841.1:c.909T>G	ENSP00000376584.1:p.Ala303=
ENST00000442944.6:c.909T>G	ENSP00000392041.2:p.Ala303=
ENST00000537841.5:c.909T>G	ENSP00000444730.1:p.Ala303=
ENST00000539045.1:n.459T>G
ENST00000542044.5:n.1405T>G
ENST00000542729.5:c.789T>G	ENSP00000443058.1:p.Ala263=
ENST00000543090.5:c.867T>G	ENSP00000445429.1:p.Ala289=
ENST00000543543.5:n.1435T>G
ENST00000544182.1:n.1409T>G
ENST00000544387.5:c.840T>G	ENSP00000438424.1:p.Ala280=
ENST00000546226.5:n.1722T>G
NM_000190.3:c.960T>G	NP_000181.2:p.Ala320=
NM_001024382.1:c.909T>G	NP_001019553.1:p.Ala303=
NM_001258208.1:c.840T>G	NP_001245137.1:p.Ala280=
NM_001258209.1:c.789T>G	NP_001245138.1:p.Ala263=
XM_005271531.1:c.909T>G	XP_005271588.1:p.Ala303=
XM_005271532.1:c.909T>G	XP_005271589.1:p.Ala303=
XM_005271533.2:c.906T>G	XP_005271590.1:p.Ala302=
XM_011542796.1:c.795T>G	XP_011541098.1:p.Ala265=
NM_000190.4:c.960T>G MANE Select	NP_000181.2:p.Ala320=
NM_001024382.2:c.909T>G	NP_001019553.1:p.Ala303=
XM_005271533.3:c.906T>G	XP_005271590.1:p.Ala302=
XM_017017629.1:c.909T>G	XP_016873118.1:p.Ala303=
XM_024448460.1:c.786T>G	XP_024304228.1:p.Ala262=
NM_001258208.2:c.840T>G	NP_001245137.1:p.Ala280=
NM_001258209.2:c.789T>G	NP_001245138.1:p.Ala263=