Canonical Allele Identifier: CA360071097

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720648G>C , CM000667.2:g.74720648G>C	GRCh38
NC_000005.9:g.74016473G>C , CM000667.1:g.74016473G>C	GRCh37
NC_000005.8:g.74052229G>C	NCBI36
NG_009770.1:g.40505G>C
NG_011531.1:g.51570C>G
NG_009770.2:g.85626G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1514G>C MANE Select	NP_000512.2:p.Arg505Pro
ENST00000261416.12:c.1514G>C MANE Select	ENSP00000261416.7:p.Arg505Pro
NM_000521.3:c.1514G>C	NP_000512.1:p.Arg505Pro
NM_001292004.1:c.839G>C	NP_001278933.1:p.Arg280Pro
NM_001292004.2:c.839G>C	NP_001278933.1:p.Arg280Pro
ENST00000261416.11:c.1514G>C	ENSP00000261416.7:p.Arg505Pro
ENST00000503312.5:c.390G>C
ENST00000504459.5:n.711G>C
ENST00000505859.1:c.37G>C
ENST00000509579.1:c.-50G>C	ENSP00000424939.1:n.-50G>C
ENST00000511181.5:c.839G>C	ENSP00000426285.1:p.Arg280Pro
ENST00000513336.5:c.450G>C
ENST00000513539.1:n.233G>C