Canonical Allele Identifier: CA3305762
Gene: HEXB HGNC NCBI

Linked Data

dbSNP Id: rs758658319
gnomAD v2: 5-73981284-C-T
gnomAD v3: 5-74685459-C-T
gnomAD v4: 5-74685459-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685459C>T , CM000667.2:g.74685459C>T GRCh38
NC_000005.9:g.73981284C>T , CM000667.1:g.73981284C>T GRCh37
NC_000005.8:g.74017040C>T NCBI36
NG_009770.1:g.5316C>T
NG_009770.2:g.50437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.199C>T MANE Select ENSP00000261416.7:p.Pro67Ser
ENST00000261416.11:c.199C>T ENSP00000261416.7:p.Pro67Ser
ENST00000511181.5:c.-376-3869C>T ENSP00000426285.1:n.-376-3869C>T
ENST00000513079.5:n.264C>T
ENST00000515528.1:n.254C>T
NM_000521.3:c.199C>T NP_000512.1:p.Pro67Ser
NM_001292004.1:c.-376-3869C>T NP_001278933.1:n.-376-3869C>T
NM_000521.4:c.199C>T MANE Select NP_000512.2:p.Pro67Ser
NM_001292004.2:c.-376-3869C>T NP_001278933.1:n.-376-3869C>T