Canonical Allele Identifier: CA10602991

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74696733T>G , CM000667.2:g.74696733T>G	GRCh38
NC_000005.9:g.73992558T>G , CM000667.1:g.73992558T>G	GRCh37
NC_000005.8:g.74028314T>G	NCBI36
NG_009770.1:g.16590T>G
NG_009770.2:g.61711T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.552T>G MANE Select	NP_000512.2:p.Tyr184Ter
ENST00000261416.12:c.552T>G MANE Select	ENSP00000261416.7:p.Tyr184Ter
NM_000521.3:c.552T>G	NP_000512.1:p.Tyr184Ter
NM_001292004.1:c.-124T>G	NP_001278933.1:n.-124T>G
NM_001292004.2:c.-124T>G	NP_001278933.1:n.-124T>G
ENST00000261416.11:c.552T>G	ENSP00000261416.7:p.Tyr184Ter
ENST00000510820.1:n.271T>G
ENST00000511181.5:c.-124T>G	ENSP00000426285.1:n.-124T>G
ENST00000513079.5:n.617T>G