Canonical Allele Identifier: CA360062854

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73985157C>G (hg19) ; chr5:g.74689332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689332C>G , CM000667.2:g.74689332C>G	GRCh38
NC_000005.9:g.73985157C>G , CM000667.1:g.73985157C>G	GRCh37
NC_000005.8:g.74020913C>G	NCBI36
NG_009770.1:g.9189C>G
NG_009770.2:g.54310C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.304C>G MANE Select	ENSP00000261416.7:p.His102Asp
ENST00000261416.11:c.304C>G	ENSP00000261416.7:p.His102Asp
ENST00000511181.5:c.-372C>G	ENSP00000426285.1:n.-372C>G
ENST00000513079.5:n.369C>G
ENST00000515528.1:n.359C>G
NM_000521.3:c.304C>G	NP_000512.1:p.His102Asp
NM_001292004.1:c.-372C>G	NP_001278933.1:n.-372C>G
NM_000521.4:c.304C>G MANE Select	NP_000512.2:p.His102Asp
NM_001292004.2:c.-372C>G	NP_001278933.1:n.-372C>G