Canonical Allele Identifier: CA3306243

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721134C>A , CM000667.2:g.74721134C>A	GRCh38
NC_000005.9:g.74016959C>A , CM000667.1:g.74016959C>A	GRCh37
NC_000005.8:g.74052715C>A	NCBI36
NG_009770.1:g.40991C>A
NG_011531.1:g.51084G>T
NG_009770.2:g.86112C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1630C>A MANE Select	NP_000512.2:p.Gln544Lys
ENST00000261416.12:c.1630C>A MANE Select	ENSP00000261416.7:p.Gln544Lys
NM_000521.3:c.1630C>A	NP_000512.1:p.Gln544Lys
NM_001292004.1:c.955C>A	NP_001278933.1:p.Gln319Lys
NM_001292004.2:c.955C>A	NP_001278933.1:p.Gln319Lys
ENST00000261416.11:c.1630C>A	ENSP00000261416.7:p.Gln544Lys
ENST00000503312.5:c.490-184C>A
ENST00000505859.1:c.137-184C>A
ENST00000509579.1:c.67C>A	ENSP00000424939.1:p.Gln23Lys
ENST00000511181.5:c.955C>A	ENSP00000426285.1:p.Gln319Lys
ENST00000513336.5:c.566C>A
ENST00000513539.1:n.349C>A
ENST00000513867.1:n.78C>A