Canonical Allele Identifier: CA2674240485

Gene: HEXB

Linked Data

• gnomAD v4: 5-74718652-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718652A>C , CM000667.2:g.74718652A>C	GRCh38
NC_000005.9:g.74014477A>C , CM000667.1:g.74014477A>C	GRCh37
NC_000005.8:g.74050233A>C	NCBI36
NG_009770.1:g.38509A>C
NG_009770.2:g.83630A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-145A>C MANE Select	ENSP00000261416.7:n.1243-145A>C
ENST00000261416.11:c.1243-145A>C	ENSP00000261416.7:n.1243-145A>C
ENST00000503312.5:c.119-145A>C
ENST00000504459.5:n.440-145A>C
ENST00000511181.5:c.568-145A>C	ENSP00000426285.1:n.568-145A>C
ENST00000513336.5:c.179-145A>C
ENST00000513539.1:n.74-257A>C
NM_000521.3:c.1243-145A>C	NP_000512.1:n.1243-145A>C
NM_001292004.1:c.568-145A>C	NP_001278933.1:n.568-145A>C
NM_000521.4:c.1243-145A>C MANE Select	NP_000512.2:n.1243-145A>C
NM_001292004.2:c.568-145A>C	NP_001278933.1:n.568-145A>C