Canonical Allele Identifier: CA942780470

Gene: HMBS

Linked Data

• dbSNP Id: rs769645562
• gnomAD v3: 11-119092544-G-C
• gnomAD v4: 11-119092544-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092544G>C , CM000673.2:g.119092544G>C	GRCh38
NC_000011.9:g.118963254G>C , CM000673.1:g.118963254G>C	GRCh37
NC_000011.8:g.118468464G>C	NCBI36
NG_008093.1:g.12668G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.606+21G>C	ENSP00000509288.1:n.606+21G>C
ENST00000691144.1:n.2773G>C
ENST00000691249.1:n.1595+21G>C
ENST00000442944.7:c.753+21G>C	ENSP00000392041.3:n.753+21G>C
ENST00000640813.1:c.*8+21G>C	ENSP00000491061.1:n.*8+21G>C
ENST00000648026.1:c.665+21G>C	ENSP00000498044.1:n.665+21G>C
ENST00000648374.1:c.720+21G>C	ENSP00000497255.1:n.720+21G>C
ENST00000649823.1:n.1228+21G>C
ENST00000650101.1:c.702+21G>C	ENSP00000496970.1:n.702+21G>C
ENST00000650307.1:n.1597+21G>C
ENST00000652429.1:c.771+21G>C MANE Select	ENSP00000498786.1:n.771+21G>C
ENST00000278715.7:c.771+21G>C	ENSP00000278715.3:n.771+21G>C
ENST00000392841.1:c.720+21G>C	ENSP00000376584.1:n.720+21G>C
ENST00000442944.6:c.720+21G>C	ENSP00000392041.2:n.720+21G>C
ENST00000537841.5:c.720+21G>C	ENSP00000444730.1:n.720+21G>C
ENST00000542044.5:n.1216+21G>C
ENST00000542729.5:c.601-214G>C	ENSP00000443058.1:n.601-214G>C
ENST00000543090.5:c.678+21G>C	ENSP00000445429.1:n.678+21G>C
ENST00000543543.5:n.1246+21G>C
ENST00000544182.1:n.1007G>C
ENST00000544387.5:c.652-214G>C	ENSP00000438424.1:n.652-214G>C
ENST00000546226.5:n.1320G>C
NM_000190.3:c.771+21G>C	NP_000181.2:n.771+21G>C
NM_001024382.1:c.720+21G>C	NP_001019553.1:n.720+21G>C
NM_001258208.1:c.652-214G>C	NP_001245137.1:n.652-214G>C
NM_001258209.1:c.601-214G>C	NP_001245138.1:n.601-214G>C
XM_005271531.1:c.720+21G>C	XP_005271588.1:n.720+21G>C
XM_005271532.1:c.720+21G>C	XP_005271589.1:n.720+21G>C
XM_005271533.2:c.717+21G>C	XP_005271590.1:n.717+21G>C
XM_011542796.1:c.606+21G>C	XP_011541098.1:n.606+21G>C
NM_000190.4:c.771+21G>C MANE Select	NP_000181.2:n.771+21G>C
NM_001024382.2:c.720+21G>C	NP_001019553.1:n.720+21G>C
XM_005271533.3:c.717+21G>C	XP_005271590.1:n.717+21G>C
XM_017017629.1:c.720+21G>C	XP_016873118.1:n.720+21G>C
XM_024448460.1:c.598-214G>C	XP_024304228.1:n.598-214G>C
NM_001258208.2:c.652-214G>C	NP_001245137.1:n.652-214G>C
NM_001258209.2:c.601-214G>C	NP_001245138.1:n.601-214G>C