Canonical Allele Identifier: CA120900555

Gene: HEXB

Linked Data

• dbSNP Id: rs562920191
• gnomAD v4: 5-74689217-T-C
• MyVariant Identifiers: chr5:g.73985042T>C (hg19) ; chr5:g.74689217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689217T>C , CM000667.2:g.74689217T>C	GRCh38
NC_000005.9:g.73985042T>C , CM000667.1:g.73985042T>C	GRCh37
NC_000005.8:g.74020798T>C	NCBI36
NG_009770.1:g.9074T>C
NG_009770.2:g.54195T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.300-111T>C MANE Select	ENSP00000261416.7:n.300-111T>C
ENST00000261416.11:c.300-111T>C	ENSP00000261416.7:n.300-111T>C
ENST00000511181.5:c.-376-111T>C	ENSP00000426285.1:n.-376-111T>C
ENST00000513079.5:n.365-111T>C
ENST00000515528.1:n.355-111T>C
NM_000521.3:c.300-111T>C	NP_000512.1:n.300-111T>C
NM_001292004.1:c.-376-111T>C	NP_001278933.1:n.-376-111T>C
NM_000521.4:c.300-111T>C MANE Select	NP_000512.2:n.300-111T>C
NM_001292004.2:c.-376-111T>C	NP_001278933.1:n.-376-111T>C