Canonical Allele Identifier: CA382899053

Gene: HMBS

Linked Data

• ClinVar Variation Id: 971922
• ClinVar RCV Id: RCV001247826
• dbSNP Id: rs1946325053
• MyVariant Identifiers: chr11:g.118963819G>C (hg19) ; chr11:g.119093109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093109G>C , CM000673.2:g.119093109G>C	GRCh38
NC_000011.9:g.118963819G>C , CM000673.1:g.118963819G>C	GRCh37
NC_000011.8:g.118469029G>C	NCBI36
NG_008093.1:g.13233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.748-1G>C	ENSP00000509288.1:n.748-1G>C
ENST00000691144.1:n.3128-1G>C
ENST00000691249.1:n.1737-1G>C
ENST00000442944.7:c.895-1G>C	ENSP00000392041.3:n.895-1G>C
ENST00000640813.1:c.*150-1G>C	ENSP00000491061.1:n.*150-1G>C
ENST00000648026.1:c.807-1G>C	ENSP00000498044.1:n.807-1G>C
ENST00000648374.1:c.862-1G>C	ENSP00000497255.1:n.862-1G>C
ENST00000650101.1:c.844-1G>C	ENSP00000496970.1:n.844-1G>C
ENST00000650307.1:n.1739-1G>C
ENST00000652429.1:c.913-1G>C MANE Select	ENSP00000498786.1:n.913-1G>C
ENST00000278715.7:c.913-1G>C	ENSP00000278715.3:n.913-1G>C
ENST00000392841.1:c.862-1G>C	ENSP00000376584.1:n.862-1G>C
ENST00000442944.6:c.862-1G>C	ENSP00000392041.2:n.862-1G>C
ENST00000537841.5:c.862-1G>C	ENSP00000444730.1:n.862-1G>C
ENST00000539045.1:n.412-1G>C
ENST00000542044.5:n.1358-1G>C
ENST00000542729.5:c.742-1G>C	ENSP00000443058.1:n.742-1G>C
ENST00000543090.5:c.820-1G>C	ENSP00000445429.1:n.820-1G>C
ENST00000543543.5:n.1388-1G>C
ENST00000544182.1:n.1362-1G>C
ENST00000544387.5:c.793-1G>C	ENSP00000438424.1:n.793-1G>C
ENST00000546226.5:n.1675-1G>C
NM_000190.3:c.913-1G>C	NP_000181.2:n.913-1G>C
NM_001024382.1:c.862-1G>C	NP_001019553.1:n.862-1G>C
NM_001258208.1:c.793-1G>C	NP_001245137.1:n.793-1G>C
NM_001258209.1:c.742-1G>C	NP_001245138.1:n.742-1G>C
XM_005271531.1:c.862-1G>C	XP_005271588.1:n.862-1G>C
XM_005271532.1:c.862-1G>C	XP_005271589.1:n.862-1G>C
XM_005271533.2:c.859-1G>C	XP_005271590.1:n.859-1G>C
XM_011542796.1:c.748-1G>C	XP_011541098.1:n.748-1G>C
NM_000190.4:c.913-1G>C MANE Select	NP_000181.2:n.913-1G>C
NM_001024382.2:c.862-1G>C	NP_001019553.1:n.862-1G>C
XM_005271533.3:c.859-1G>C	XP_005271590.1:n.859-1G>C
XM_017017629.1:c.862-1G>C	XP_016873118.1:n.862-1G>C
XM_024448460.1:c.739-1G>C	XP_024304228.1:n.739-1G>C
NM_001258208.2:c.793-1G>C	NP_001245137.1:n.793-1G>C
NM_001258209.2:c.742-1G>C	NP_001245138.1:n.742-1G>C