Canonical Allele Identifier: CA2832282090

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084917C>G , CM000673.2:g.119084917C>G	GRCh38
NC_000011.9:g.118955627C>G , CM000673.1:g.118955627C>G	GRCh37
NC_000011.8:g.118460837C>G	NCBI36
NG_008093.1:g.5041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-117C>G	ENSP00000392041.3:n.-117C>G
ENST00000536813.6:c.-251C>G	ENSP00000438726.2:n.-251C>G
ENST00000546302.6:c.-117C>G	ENSP00000445599.1:n.-117C>G
ENST00000640813.1:c.-168C>G	ENSP00000491061.1:n.-168C>G
ENST00000652429.1:c.-117C>G MANE Select	ENSP00000498786.1:n.-117C>G
ENST00000278715.7:c.-117C>G	ENSP00000278715.3:n.-117C>G
ENST00000442944.6:c.-251C>G	ENSP00000392041.2:n.-251C>G
ENST00000535793.5:c.-117C>G	ENSP00000439904.1:n.-117C>G
ENST00000536185.5:n.52C>G
ENST00000536813.5:c.-117C>G	ENSP00000438726.1:n.-117C>G
ENST00000537841.5:c.-259C>G	ENSP00000444730.1:n.-259C>G
ENST00000542044.5:n.9C>G
ENST00000542729.5:c.-259C>G	ENSP00000443058.1:n.-259C>G
ENST00000542822.5:c.-117C>G	ENSP00000444817.1:n.-117C>G
ENST00000543821.5:n.30C>G
ENST00000544387.5:c.-117C>G	ENSP00000438424.1:n.-117C>G
ENST00000545621.5:c.-117C>G	ENSP00000444849.1:n.-117C>G
ENST00000545901.5:n.37C>G
ENST00000546302.5:c.-117C>G	ENSP00000445599.1:n.-117C>G
NM_000190.3:c.-117C>G	NP_000181.2:n.-117C>G
NM_001258208.1:c.-117C>G	NP_001245137.1:n.-117C>G
NM_001258209.1:c.-259C>G	NP_001245138.1:n.-259C>G
XM_005271531.1:c.-259C>G	XP_005271588.1:n.-259C>G
XM_005271532.1:c.-235C>G	XP_005271589.1:n.-235C>G
XM_005271533.2:c.-117C>G	XP_005271590.1:n.-117C>G
NM_000190.4:c.-117C>G MANE Select	NP_000181.2:n.-117C>G
XM_005271533.3:c.-117C>G	XP_005271590.1:n.-117C>G
XM_024448460.1:c.-117C>G	XP_024304228.1:n.-117C>G
NM_001258208.2:c.-117C>G	NP_001245137.1:n.-117C>G
NM_001258209.2:c.-259C>G	NP_001245138.1:n.-259C>G