Canonical Allele Identifier: CA3306250

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721171T>C , CM000667.2:g.74721171T>C	GRCh38
NC_000005.9:g.74016996T>C , CM000667.1:g.74016996T>C	GRCh37
NC_000005.8:g.74052752T>C	NCBI36
NG_009770.1:g.41028T>C
NG_011531.1:g.51047A>G
NG_009770.2:g.86149T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1667T>C MANE Select	NP_000512.2:p.Met556Thr
ENST00000261416.12:c.1667T>C MANE Select	ENSP00000261416.7:p.Met556Thr
NM_000521.3:c.1667T>C	NP_000512.1:p.Met556Thr
NM_001292004.1:c.992T>C	NP_001278933.1:p.Met331Thr
NM_001292004.2:c.992T>C	NP_001278933.1:p.Met331Thr
ENST00000261416.11:c.1667T>C	ENSP00000261416.7:p.Met556Thr
ENST00000503312.5:c.490-147T>C
ENST00000505859.1:c.137-147T>C
ENST00000509579.1:c.104T>C	ENSP00000424939.1:p.Met35Thr
ENST00000511181.5:c.992T>C	ENSP00000426285.1:p.Met331Thr
ENST00000513336.5:c.603T>C
ENST00000513539.1:n.386T>C
ENST00000513867.1:n.115T>C