Canonical Allele Identifier: CA15384674

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74719200T>C , CM000667.2:g.74719200T>C	GRCh38
NC_000005.9:g.74015025T>C , CM000667.1:g.74015025T>C	GRCh37
NC_000005.8:g.74050781T>C	NCBI36
NG_009770.1:g.39057T>C
NG_009770.2:g.84178T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1417+229T>C MANE Select	NP_000512.2:n.1417+229T>C
ENST00000261416.12:c.1417+229T>C MANE Select	ENSP00000261416.7:n.1417+229T>C
NM_000521.3:c.1417+229T>C	NP_000512.1:n.1417+229T>C
NM_001292004.1:c.742+229T>C	NP_001278933.1:n.742+229T>C
NM_001292004.2:c.742+229T>C	NP_001278933.1:n.742+229T>C
ENST00000261416.11:c.1417+229T>C	ENSP00000261416.7:n.1417+229T>C
ENST00000503312.5:c.293+229T>C
ENST00000504459.5:n.614+229T>C
ENST00000511181.5:c.742+229T>C	ENSP00000426285.1:n.742+229T>C
ENST00000513336.5:c.353+229T>C
ENST00000513539.1:n.136+229T>C