Canonical Allele Identifier: CA3306154

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720447A>C , CM000667.2:g.74720447A>C	GRCh38
NC_000005.9:g.74016272A>C , CM000667.1:g.74016272A>C	GRCh37
NC_000005.8:g.74052028A>C	NCBI36
NG_009770.1:g.40304A>C
NG_011531.1:g.51771T>G
NG_009770.2:g.85425A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1437A>C MANE Select	NP_000512.2:p.Gln479His
ENST00000261416.12:c.1437A>C MANE Select	ENSP00000261416.7:p.Gln479His
NM_000521.3:c.1437A>C	NP_000512.1:p.Gln479His
NM_001292004.1:c.762A>C	NP_001278933.1:p.Gln254His
NM_001292004.2:c.762A>C	NP_001278933.1:p.Gln254His
ENST00000261416.11:c.1437A>C	ENSP00000261416.7:p.Gln479His
ENST00000503312.5:c.313A>C
ENST00000504459.5:n.634A>C
ENST00000509579.1:c.-127A>C	ENSP00000424939.1:n.-127A>C
ENST00000511181.5:c.762A>C	ENSP00000426285.1:p.Gln254His
ENST00000513336.5:c.373A>C
ENST00000513539.1:n.156A>C