Canonical Allele Identifier: CA360070190

Gene: HEXB

Linked Data

• dbSNP Id: rs1749738520
• gnomAD v4: 5-74718814-A-G
• MyVariant Identifiers: chr5:g.74014639A>G (hg19) ; chr5:g.74718814A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718814A>G , CM000667.2:g.74718814A>G	GRCh38
NC_000005.9:g.74014639A>G , CM000667.1:g.74014639A>G	GRCh37
NC_000005.8:g.74050395A>G	NCBI36
NG_009770.1:g.38671A>G
NG_009770.2:g.83792A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1260A>G MANE Select	ENSP00000261416.7:p.Ile420Met
ENST00000261416.11:c.1260A>G	ENSP00000261416.7:p.Ile420Met
ENST00000503312.5:c.136A>G
ENST00000504459.5:n.457A>G
ENST00000511181.5:c.585A>G	ENSP00000426285.1:p.Ile195Met
ENST00000513336.5:c.196A>G
ENST00000513539.1:n.74-95A>G
NM_000521.3:c.1260A>G	NP_000512.1:p.Ile420Met
NM_001292004.1:c.585A>G	NP_001278933.1:p.Ile195Met
NM_000521.4:c.1260A>G MANE Select	NP_000512.2:p.Ile420Met
NM_001292004.2:c.585A>G	NP_001278933.1:p.Ile195Met