Canonical Allele Identifier: CA560367577

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718366G>T , CM000667.2:g.74718366G>T	GRCh38
NC_000005.9:g.74014191G>T , CM000667.1:g.74014191G>T	GRCh37
NC_000005.8:g.74049947G>T	NCBI36
NG_009770.1:g.38223G>T
NG_009770.2:g.83344G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1242+3G>T MANE Select	NP_000512.2:n.1242+3G>T
ENST00000261416.12:c.1242+3G>T MANE Select	ENSP00000261416.7:n.1242+3G>T
NM_000521.3:c.1242+3G>T	NP_000512.1:n.1242+3G>T
NM_001292004.1:c.567+3G>T	NP_001278933.1:n.567+3G>T
NM_001292004.2:c.567+3G>T	NP_001278933.1:n.567+3G>T
ENST00000261416.11:c.1242+3G>T	ENSP00000261416.7:n.1242+3G>T
ENST00000503312.5:c.118+3G>T
ENST00000504459.5:n.439+3G>T
ENST00000511181.5:c.567+3G>T	ENSP00000426285.1:n.567+3G>T
ENST00000513336.5:c.178+3G>T
ENST00000513539.1:n.73+3G>T