Canonical Allele Identifier: CA120898921

Gene: HEXB

Linked Data

• dbSNP Id: rs201795425
• gnomAD v3: 5-74685469-T-C
• gnomAD v4: 5-74685469-T-C
• MyVariant Identifiers: chr5:g.73981294T>C (hg19) ; chr5:g.74685469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685469T>C , CM000667.2:g.74685469T>C	GRCh38
NC_000005.9:g.73981294T>C , CM000667.1:g.73981294T>C	GRCh37
NC_000005.8:g.74017050T>C	NCBI36
NG_009770.1:g.5326T>C
NG_009770.2:g.50447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.209T>C MANE Select	ENSP00000261416.7:p.Leu70Pro
ENST00000261416.11:c.209T>C	ENSP00000261416.7:p.Leu70Pro
ENST00000511181.5:c.-376-3859T>C	ENSP00000426285.1:n.-376-3859T>C
ENST00000513079.5:n.274T>C
ENST00000515528.1:n.264T>C
NM_000521.3:c.209T>C	NP_000512.1:p.Leu70Pro
NM_001292004.1:c.-376-3859T>C	NP_001278933.1:n.-376-3859T>C
NM_000521.4:c.209T>C MANE Select	NP_000512.2:p.Leu70Pro
NM_001292004.2:c.-376-3859T>C	NP_001278933.1:n.-376-3859T>C