Canonical Allele Identifier: CA360063043

Gene: HEXB

Linked Data

• gnomAD v4: 5-74689414-T-C
• MyVariant Identifiers: chr5:g.73985239T>C (hg19) ; chr5:g.74689414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689414T>C , CM000667.2:g.74689414T>C	GRCh38
NC_000005.9:g.73985239T>C , CM000667.1:g.73985239T>C	GRCh37
NC_000005.8:g.74020995T>C	NCBI36
NG_009770.1:g.9271T>C
NG_009770.2:g.54392T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.386T>C MANE Select	ENSP00000261416.7:p.Val129Ala
ENST00000261416.11:c.386T>C	ENSP00000261416.7:p.Val129Ala
ENST00000511181.5:c.-290T>C	ENSP00000426285.1:n.-290T>C
ENST00000513079.5:n.451T>C
ENST00000515528.1:n.441T>C
NM_000521.3:c.386T>C	NP_000512.1:p.Val129Ala
NM_001292004.1:c.-290T>C	NP_001278933.1:n.-290T>C
NM_000521.4:c.386T>C MANE Select	NP_000512.2:p.Val129Ala
NM_001292004.2:c.-290T>C	NP_001278933.1:n.-290T>C