Canonical Allele Identifier: CA360063039

Gene: HEXB

Linked Data

• gnomAD v4: 5-74689413-G-A
• MyVariant Identifiers: chr5:g.73985238G>A (hg19) ; chr5:g.74689413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689413G>A , CM000667.2:g.74689413G>A	GRCh38
NC_000005.9:g.73985238G>A , CM000667.1:g.73985238G>A	GRCh37
NC_000005.8:g.74020994G>A	NCBI36
NG_009770.1:g.9270G>A
NG_009770.2:g.54391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.385G>A MANE Select	ENSP00000261416.7:p.Val129Ile
ENST00000261416.11:c.385G>A	ENSP00000261416.7:p.Val129Ile
ENST00000511181.5:c.-291G>A	ENSP00000426285.1:n.-291G>A
ENST00000513079.5:n.450G>A
ENST00000515528.1:n.440G>A
NM_000521.3:c.385G>A	NP_000512.1:p.Val129Ile
NM_001292004.1:c.-291G>A	NP_001278933.1:n.-291G>A
NM_000521.4:c.385G>A MANE Select	NP_000512.2:p.Val129Ile
NM_001292004.2:c.-291G>A	NP_001278933.1:n.-291G>A