Canonical Allele Identifier: CA360070182

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74014635C>A (hg19) ; chr5:g.74718810C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718810C>A , CM000667.2:g.74718810C>A	GRCh38
NC_000005.9:g.74014635C>A , CM000667.1:g.74014635C>A	GRCh37
NC_000005.8:g.74050391C>A	NCBI36
NG_009770.1:g.38667C>A
NG_009770.2:g.83788C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1256C>A MANE Select	ENSP00000261416.7:p.Thr419Lys
ENST00000261416.11:c.1256C>A	ENSP00000261416.7:p.Thr419Lys
ENST00000503312.5:c.132C>A
ENST00000504459.5:n.453C>A
ENST00000511181.5:c.581C>A	ENSP00000426285.1:p.Thr194Lys
ENST00000513336.5:c.192C>A
ENST00000513539.1:n.74-99C>A
NM_000521.3:c.1256C>A	NP_000512.1:p.Thr419Lys
NM_001292004.1:c.581C>A	NP_001278933.1:p.Thr194Lys
NM_000521.4:c.1256C>A MANE Select	NP_000512.2:p.Thr419Lys
NM_001292004.2:c.581C>A	NP_001278933.1:p.Thr194Lys