Canonical Allele Identifier: CA360070177

Gene: HEXB

Linked Data

• dbSNP Id: rs1346504442
• gnomAD v2: 5-74014632-G-C
• gnomAD v4: 5-74718807-G-C
• COSMIC: COSM3769963
• MyVariant Identifiers: chr5:g.74014632G>C (hg19) ; chr5:g.74718807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718807G>C , CM000667.2:g.74718807G>C	GRCh38
NC_000005.9:g.74014632G>C , CM000667.1:g.74014632G>C	GRCh37
NC_000005.8:g.74050388G>C	NCBI36
NG_009770.1:g.38664G>C
NG_009770.2:g.83785G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1253G>C MANE Select	ENSP00000261416.7:p.Gly418Ala
ENST00000261416.11:c.1253G>C	ENSP00000261416.7:p.Gly418Ala
ENST00000503312.5:c.129G>C
ENST00000504459.5:n.450G>C
ENST00000511181.5:c.578G>C	ENSP00000426285.1:p.Gly193Ala
ENST00000513336.5:c.189G>C
ENST00000513539.1:n.74-102G>C
NM_000521.3:c.1253G>C	NP_000512.1:p.Gly418Ala
NM_001292004.1:c.578G>C	NP_001278933.1:p.Gly193Ala
NM_000521.4:c.1253G>C MANE Select	NP_000512.2:p.Gly418Ala
NM_001292004.2:c.578G>C	NP_001278933.1:p.Gly193Ala