Canonical Allele Identifier: CA360071975

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74016974G>C (hg19) ; chr5:g.74721149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721149G>C , CM000667.2:g.74721149G>C	GRCh38
NC_000005.9:g.74016974G>C , CM000667.1:g.74016974G>C	GRCh37
NC_000005.8:g.74052730G>C	NCBI36
NG_009770.1:g.41006G>C
NG_011531.1:g.51069C>G
NG_009770.2:g.86127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1645G>C MANE Select	ENSP00000261416.7:p.Gly549Arg
ENST00000261416.11:c.1645G>C	ENSP00000261416.7:p.Gly549Arg
ENST00000503312.5:c.490-169G>C
ENST00000505859.1:c.137-169G>C
ENST00000509579.1:c.82G>C	ENSP00000424939.1:p.Gly28Arg
ENST00000511181.5:c.970G>C	ENSP00000426285.1:p.Gly324Arg
ENST00000513336.5:c.581G>C
ENST00000513539.1:n.364G>C
ENST00000513867.1:n.93G>C
NM_000521.3:c.1645G>C	NP_000512.1:p.Gly549Arg
NM_001292004.1:c.970G>C	NP_001278933.1:p.Gly324Arg
NM_000521.4:c.1645G>C MANE Select	NP_000512.2:p.Gly549Arg
NM_001292004.2:c.970G>C	NP_001278933.1:p.Gly324Arg