Canonical Allele Identifier: CA3306034

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74716573A>C , CM000667.2:g.74716573A>C	GRCh38
NC_000005.9:g.74012398A>C , CM000667.1:g.74012398A>C	GRCh37
NC_000005.8:g.74048154A>C	NCBI36
NG_009770.1:g.36430A>C
NG_009770.2:g.81551A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1083-14A>C MANE Select	NP_000512.2:n.1083-14A>C
ENST00000261416.12:c.1083-14A>C MANE Select	ENSP00000261416.7:n.1083-14A>C
NM_000521.3:c.1083-14A>C	NP_000512.1:n.1083-14A>C
NM_001292004.1:c.408-14A>C	NP_001278933.1:n.408-14A>C
NM_001292004.2:c.408-14A>C	NP_001278933.1:n.408-14A>C
ENST00000261416.11:c.1083-14A>C	ENSP00000261416.7:n.1083-14A>C
ENST00000504459.5:n.280-14A>C
ENST00000511181.5:c.408-14A>C	ENSP00000426285.1:n.408-14A>C
ENST00000511621.1:n.46-14A>C
ENST00000513336.5:c.105+883A>C