Canonical Allele Identifier: CA1555781397

Gene: HEXB

Linked Data

• dbSNP Id: rs1749733984
• gnomAD v4: 5-74718657-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718657G>T , CM000667.2:g.74718657G>T	GRCh38
NC_000005.9:g.74014482G>T , CM000667.1:g.74014482G>T	GRCh37
NC_000005.8:g.74050238G>T	NCBI36
NG_009770.1:g.38514G>T
NG_009770.2:g.83635G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-140G>T MANE Select	ENSP00000261416.7:n.1243-140G>T
ENST00000261416.11:c.1243-140G>T	ENSP00000261416.7:n.1243-140G>T
ENST00000503312.5:c.119-140G>T
ENST00000504459.5:n.440-140G>T
ENST00000511181.5:c.568-140G>T	ENSP00000426285.1:n.568-140G>T
ENST00000513336.5:c.179-140G>T
ENST00000513539.1:n.74-252G>T
NM_000521.3:c.1243-140G>T	NP_000512.1:n.1243-140G>T
NM_001292004.1:c.568-140G>T	NP_001278933.1:n.568-140G>T
NM_000521.4:c.1243-140G>T MANE Select	NP_000512.2:n.1243-140G>T
NM_001292004.2:c.568-140G>T	NP_001278933.1:n.568-140G>T