Canonical Allele Identifier: CA3306197

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720672T>C , CM000667.2:g.74720672T>C	GRCh38
NC_000005.9:g.74016497T>C , CM000667.1:g.74016497T>C	GRCh37
NC_000005.8:g.74052253T>C	NCBI36
NG_009770.1:g.40529T>C
NG_011531.1:g.51546A>G
NG_009770.2:g.85650T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1538T>C MANE Select	NP_000512.2:p.Leu513Pro
ENST00000261416.12:c.1538T>C MANE Select	ENSP00000261416.7:p.Leu513Pro
NM_000521.3:c.1538T>C	NP_000512.1:p.Leu513Pro
NM_001292004.1:c.863T>C	NP_001278933.1:p.Leu288Pro
NM_001292004.2:c.863T>C	NP_001278933.1:p.Leu288Pro
ENST00000261416.11:c.1538T>C	ENSP00000261416.7:p.Leu513Pro
ENST00000503312.5:c.414T>C
ENST00000504459.5:n.735T>C
ENST00000505859.1:c.61T>C
ENST00000509579.1:c.-26T>C	ENSP00000424939.1:n.-26T>C
ENST00000511181.5:c.863T>C	ENSP00000426285.1:p.Leu288Pro
ENST00000513336.5:c.474T>C
ENST00000513539.1:n.257T>C