Canonical Allele Identifier: CA360062218

Gene: HEXB

Linked Data

• dbSNP Id: rs2112122687
• MyVariant Identifiers: chr5:g.73981227G>T (hg19) ; chr5:g.74685402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685402G>T , CM000667.2:g.74685402G>T	GRCh38
NC_000005.9:g.73981227G>T , CM000667.1:g.73981227G>T	GRCh37
NC_000005.8:g.74016983G>T	NCBI36
NG_009770.1:g.5259G>T
NG_009770.2:g.50380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.142G>T MANE Select	ENSP00000261416.7:p.Val48Phe
ENST00000261416.11:c.142G>T	ENSP00000261416.7:p.Val48Phe
ENST00000511181.5:c.-376-3926G>T	ENSP00000426285.1:n.-376-3926G>T
ENST00000513079.5:n.207G>T
ENST00000515528.1:n.197G>T
NM_000521.3:c.142G>T	NP_000512.1:p.Val48Phe
NM_001292004.1:c.-376-3926G>T	NP_001278933.1:n.-376-3926G>T
NM_000521.4:c.142G>T MANE Select	NP_000512.2:p.Val48Phe
NM_001292004.2:c.-376-3926G>T	NP_001278933.1:n.-376-3926G>T