Canonical Allele Identifier: CA477151660

Gene: HMBS

Linked Data

• ClinVar Variation Id: 640707
• ClinVar RCV Id: RCV000793790
• dbSNP Id: rs1592208560
• MyVariant Identifiers: chr11:g.118955776G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085066G>C , CM000673.2:g.119085066G>C	GRCh38
NC_000011.9:g.118955776G>C , CM000673.1:g.118955776G>C	GRCh37
NC_000011.8:g.118460986G>C	NCBI36
NG_008093.1:g.5190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33G>C	ENSP00000392041.3:p.Ala11=
ENST00000534956.2:n.36G>C
ENST00000536813.6:c.-102G>C	ENSP00000438726.2:n.-102G>C
ENST00000546302.6:c.33G>C	ENSP00000445599.1:p.Ala11=
ENST00000640813.1:c.-19G>C	ENSP00000491061.1:n.-19G>C
ENST00000648026.1:c.27G>C	ENSP00000498044.1:p.Ala9=
ENST00000649868.1:c.33G>C	ENSP00000497548.1:p.Ala11=
ENST00000652429.1:c.33G>C MANE Select	ENSP00000498786.1:p.Ala11=
ENST00000278715.7:c.33G>C	ENSP00000278715.3:p.Ala11=
ENST00000442944.6:c.-102G>C	ENSP00000392041.2:n.-102G>C
ENST00000535793.5:c.33G>C	ENSP00000439904.1:p.Ala11=
ENST00000536185.5:n.201G>C
ENST00000536813.5:c.33G>C	ENSP00000438726.1:p.Ala11=
ENST00000537841.5:c.-110G>C	ENSP00000444730.1:n.-110G>C
ENST00000542044.5:n.158G>C
ENST00000542729.5:c.-110G>C	ENSP00000443058.1:n.-110G>C
ENST00000542822.5:c.33G>C	ENSP00000444817.1:p.Ala11=
ENST00000543090.5:c.33G>C	ENSP00000445429.1:p.Ala11=
ENST00000543821.5:n.179G>C
ENST00000544387.5:c.33G>C	ENSP00000438424.1:p.Ala11=
ENST00000545621.5:c.33G>C	ENSP00000444849.1:p.Ala11=
ENST00000545901.5:n.186G>C
ENST00000546302.5:c.33G>C	ENSP00000445599.1:p.Ala11=
NM_000190.3:c.33G>C	NP_000181.2:p.Ala11=
NM_001258208.1:c.33G>C	NP_001245137.1:p.Ala11=
NM_001258209.1:c.-110G>C	NP_001245138.1:n.-110G>C
XM_005271531.1:c.-110G>C	XP_005271588.1:n.-110G>C
XM_005271532.1:c.-86G>C	XP_005271589.1:n.-86G>C
XM_005271533.2:c.33G>C	XP_005271590.1:p.Ala11=
NM_000190.4:c.33G>C MANE Select	NP_000181.2:p.Ala11=
XM_005271533.3:c.33G>C	XP_005271590.1:p.Ala11=
XM_024448460.1:c.33G>C	XP_024304228.1:p.Ala11=
NM_001258208.2:c.33G>C	NP_001245137.1:p.Ala11=
NM_001258209.2:c.-110G>C	NP_001245138.1:n.-110G>C