Canonical Allele Identifier: CA360063025

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73985230A>T (hg19) ; chr5:g.74689405A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689405A>T , CM000667.2:g.74689405A>T	GRCh38
NC_000005.9:g.73985230A>T , CM000667.1:g.73985230A>T	GRCh37
NC_000005.8:g.74020986A>T	NCBI36
NG_009770.1:g.9262A>T
NG_009770.2:g.54383A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.377A>T MANE Select	ENSP00000261416.7:p.Gln126Leu
ENST00000261416.11:c.377A>T	ENSP00000261416.7:p.Gln126Leu
ENST00000511181.5:c.-299A>T	ENSP00000426285.1:n.-299A>T
ENST00000513079.5:n.442A>T
ENST00000515528.1:n.432A>T
NM_000521.3:c.377A>T	NP_000512.1:p.Gln126Leu
NM_001292004.1:c.-299A>T	NP_001278933.1:n.-299A>T
NM_000521.4:c.377A>T MANE Select	NP_000512.2:p.Gln126Leu
NM_001292004.2:c.-299A>T	NP_001278933.1:n.-299A>T