Canonical Allele Identifier: CA360070189

Gene: HEXB

Linked Data

• dbSNP Id: rs1336082318
• gnomAD v2: 5-74014638-T-C
• gnomAD v4: 5-74718813-T-C
• MyVariant Identifiers: chr5:g.74014638T>C (hg19) ; chr5:g.74718813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718813T>C , CM000667.2:g.74718813T>C	GRCh38
NC_000005.9:g.74014638T>C , CM000667.1:g.74014638T>C	GRCh37
NC_000005.8:g.74050394T>C	NCBI36
NG_009770.1:g.38670T>C
NG_009770.2:g.83791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1259T>C MANE Select	ENSP00000261416.7:p.Ile420Thr
ENST00000261416.11:c.1259T>C	ENSP00000261416.7:p.Ile420Thr
ENST00000503312.5:c.135T>C
ENST00000504459.5:n.456T>C
ENST00000511181.5:c.584T>C	ENSP00000426285.1:p.Ile195Thr
ENST00000513336.5:c.195T>C
ENST00000513539.1:n.74-96T>C
NM_000521.3:c.1259T>C	NP_000512.1:p.Ile420Thr
NM_001292004.1:c.584T>C	NP_001278933.1:p.Ile195Thr
NM_000521.4:c.1259T>C MANE Select	NP_000512.2:p.Ile420Thr
NM_001292004.2:c.584T>C	NP_001278933.1:p.Ile195Thr