Canonical Allele Identifier: CA3306193

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720647C>T , CM000667.2:g.74720647C>T	GRCh38
NC_000005.9:g.74016472C>T , CM000667.1:g.74016472C>T	GRCh37
NC_000005.8:g.74052228C>T	NCBI36
NG_009770.1:g.40504C>T
NG_011531.1:g.51571G>A
NG_009770.2:g.85625C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1513C>T MANE Select	NP_000512.2:p.Arg505Trp
ENST00000261416.12:c.1513C>T MANE Select	ENSP00000261416.7:p.Arg505Trp
NM_000521.3:c.1513C>T	NP_000512.1:p.Arg505Trp
NM_001292004.1:c.838C>T	NP_001278933.1:p.Arg280Trp
NM_001292004.2:c.838C>T	NP_001278933.1:p.Arg280Trp
ENST00000261416.11:c.1513C>T	ENSP00000261416.7:p.Arg505Trp
ENST00000503312.5:c.389C>T
ENST00000504459.5:n.710C>T
ENST00000505859.1:c.36C>T
ENST00000509579.1:c.-51C>T	ENSP00000424939.1:n.-51C>T
ENST00000511181.5:c.838C>T	ENSP00000426285.1:p.Arg280Trp
ENST00000513336.5:c.449C>T
ENST00000513539.1:n.232C>T