Canonical Allele Identifier: CA477369316

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1922472
• ClinVar RCV Id: RCV002617513
• gnomAD v4: 11-119093175-G-C
• MyVariant Identifiers: chr11:g.118963885G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093175G>C , CM000673.2:g.119093175G>C	GRCh38
NC_000011.9:g.118963885G>C , CM000673.1:g.118963885G>C	GRCh37
NC_000011.8:g.118469095G>C	NCBI36
NG_008093.1:g.13299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.813G>C	ENSP00000509288.1:p.Gly271=
ENST00000691144.1:n.3193G>C
ENST00000691249.1:n.1802G>C
ENST00000442944.7:c.960G>C	ENSP00000392041.3:p.Gly320=
ENST00000640813.1:c.*215G>C	ENSP00000491061.1:n.*215G>C
ENST00000648026.1:c.872G>C	ENSP00000498044.1:n.872G>C
ENST00000648374.1:c.927G>C	ENSP00000497255.1:p.Gly309=
ENST00000650101.1:c.909G>C	ENSP00000496970.1:p.Gly303=
ENST00000650307.1:n.1804G>C
ENST00000652429.1:c.978G>C MANE Select	ENSP00000498786.1:p.Gly326=
ENST00000278715.7:c.978G>C	ENSP00000278715.3:p.Gly326=
ENST00000392841.1:c.927G>C	ENSP00000376584.1:p.Gly309=
ENST00000442944.6:c.927G>C	ENSP00000392041.2:p.Gly309=
ENST00000537841.5:c.927G>C	ENSP00000444730.1:p.Gly309=
ENST00000539045.1:n.477G>C
ENST00000542044.5:n.1423G>C
ENST00000542729.5:c.807G>C	ENSP00000443058.1:p.Gly269=
ENST00000543090.5:c.885G>C	ENSP00000445429.1:p.Gly295=
ENST00000543543.5:n.1453G>C
ENST00000544182.1:n.1427G>C
ENST00000544387.5:c.858G>C	ENSP00000438424.1:p.Gly286=
ENST00000546226.5:n.1740G>C
NM_000190.3:c.978G>C	NP_000181.2:p.Gly326=
NM_001024382.1:c.927G>C	NP_001019553.1:p.Gly309=
NM_001258208.1:c.858G>C	NP_001245137.1:p.Gly286=
NM_001258209.1:c.807G>C	NP_001245138.1:p.Gly269=
XM_005271531.1:c.927G>C	XP_005271588.1:p.Gly309=
XM_005271532.1:c.927G>C	XP_005271589.1:p.Gly309=
XM_005271533.2:c.924G>C	XP_005271590.1:p.Gly308=
XM_011542796.1:c.813G>C	XP_011541098.1:p.Gly271=
NM_000190.4:c.978G>C MANE Select	NP_000181.2:p.Gly326=
NM_001024382.2:c.927G>C	NP_001019553.1:p.Gly309=
XM_005271533.3:c.924G>C	XP_005271590.1:p.Gly308=
XM_017017629.1:c.927G>C	XP_016873118.1:p.Gly309=
XM_024448460.1:c.804G>C	XP_024304228.1:p.Gly268=
NM_001258208.2:c.858G>C	NP_001245137.1:p.Gly286=
NM_001258209.2:c.807G>C	NP_001245138.1:p.Gly269=