Canonical Allele Identifier: CA6314245

Gene: HMBS

Linked Data

• dbSNP Id: rs765323550
• ExAC: 11:118963628 A / C
• gnomAD v2: 11-118963628-A-C
• MyVariant Identifiers: chr11:g.118963628A>C (hg19) ; chr11:g.119092918A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092918A>C , CM000673.2:g.119092918A>C	GRCh38
NC_000011.9:g.118963628A>C , CM000673.1:g.118963628A>C	GRCh37
NC_000011.8:g.118468838A>C	NCBI36
NG_008093.1:g.13042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.661-17A>C	ENSP00000509288.1:n.661-17A>C
ENST00000691144.1:n.3041-17A>C
ENST00000691249.1:n.1650-17A>C
ENST00000442944.7:c.808-17A>C	ENSP00000392041.3:n.808-17A>C
ENST00000640813.1:c.*63-17A>C	ENSP00000491061.1:n.*63-17A>C
ENST00000648026.1:c.720-17A>C	ENSP00000498044.1:n.720-17A>C
ENST00000648374.1:c.775-17A>C	ENSP00000497255.1:n.775-17A>C
ENST00000649823.1:n.1283-17A>C
ENST00000650101.1:c.757-17A>C	ENSP00000496970.1:n.757-17A>C
ENST00000650307.1:n.1652-17A>C
ENST00000652429.1:c.826-17A>C MANE Select	ENSP00000498786.1:n.826-17A>C
ENST00000278715.7:c.826-17A>C	ENSP00000278715.3:n.826-17A>C
ENST00000392841.1:c.775-17A>C	ENSP00000376584.1:n.775-17A>C
ENST00000442944.6:c.775-17A>C	ENSP00000392041.2:n.775-17A>C
ENST00000537841.5:c.775-17A>C	ENSP00000444730.1:n.775-17A>C
ENST00000539045.1:n.308A>C
ENST00000542044.5:n.1271-17A>C
ENST00000542729.5:c.655-17A>C	ENSP00000443058.1:n.655-17A>C
ENST00000543090.5:c.733-17A>C	ENSP00000445429.1:n.733-17A>C
ENST00000543543.5:n.1301-17A>C
ENST00000544182.1:n.1275-17A>C
ENST00000544387.5:c.706-17A>C	ENSP00000438424.1:n.706-17A>C
ENST00000546226.5:n.1588-17A>C
NM_000190.3:c.826-17A>C	NP_000181.2:n.826-17A>C
NM_001024382.1:c.775-17A>C	NP_001019553.1:n.775-17A>C
NM_001258208.1:c.706-17A>C	NP_001245137.1:n.706-17A>C
NM_001258209.1:c.655-17A>C	NP_001245138.1:n.655-17A>C
XM_005271531.1:c.775-17A>C	XP_005271588.1:n.775-17A>C
XM_005271532.1:c.775-17A>C	XP_005271589.1:n.775-17A>C
XM_005271533.2:c.772-17A>C	XP_005271590.1:n.772-17A>C
XM_011542796.1:c.661-17A>C	XP_011541098.1:n.661-17A>C
NM_000190.4:c.826-17A>C MANE Select	NP_000181.2:n.826-17A>C
NM_001024382.2:c.775-17A>C	NP_001019553.1:n.775-17A>C
XM_005271533.3:c.772-17A>C	XP_005271590.1:n.772-17A>C
XM_017017629.1:c.775-17A>C	XP_016873118.1:n.775-17A>C
XM_024448460.1:c.652-17A>C	XP_024304228.1:n.652-17A>C
NM_001258208.2:c.706-17A>C	NP_001245137.1:n.706-17A>C
NM_001258209.2:c.655-17A>C	NP_001245138.1:n.655-17A>C