Canonical Allele Identifier: CA360062565

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73981385G>T (hg19) ; chr5:g.74685560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685560G>T , CM000667.2:g.74685560G>T	GRCh38
NC_000005.9:g.73981385G>T , CM000667.1:g.73981385G>T	GRCh37
NC_000005.8:g.74017141G>T	NCBI36
NG_009770.1:g.5417G>T
NG_009770.2:g.50538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.299+1G>T MANE Select	ENSP00000261416.7:n.299+1G>T
ENST00000261416.11:c.299+1G>T	ENSP00000261416.7:n.299+1G>T
ENST00000511181.5:c.-376-3768G>T	ENSP00000426285.1:n.-376-3768G>T
ENST00000513079.5:n.364+1G>T
ENST00000515528.1:n.354+1G>T
NM_000521.3:c.299+1G>T	NP_000512.1:n.299+1G>T
NM_001292004.1:c.-376-3768G>T	NP_001278933.1:n.-376-3768G>T
NM_000521.4:c.299+1G>T MANE Select	NP_000512.2:n.299+1G>T
NM_001292004.2:c.-376-3768G>T	NP_001278933.1:n.-376-3768G>T