Canonical Allele Identifier: CA481347090

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1610392
• ClinVar RCV Id: RCV002155465
• dbSNP Id: rs1276702655
• gnomAD v2: 12-102224355-G-A
• MyVariant Identifiers: chr12:g.102224355G>A (hg19) ; chr12:g.101830577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830577G>A , CM000674.2:g.101830577G>A	GRCh38
NC_000012.11:g.102224355G>A , CM000674.1:g.102224355G>A	GRCh37
NC_000012.10:g.100748486G>A	NCBI36
NG_021243.1:g.5291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.99C>T MANE Select	ENSP00000299314.7:p.Ser33=
ENST00000647144.1:n.87C>T
ENST00000299314.11:c.99C>T	ENSP00000299314.7:p.Ser33=
ENST00000392919.4:c.99C>T	ENSP00000376651.4:p.Ser33=
ENST00000549165.1:c.99C>T	ENSP00000450413.1:p.Ser33=
ENST00000549940.5:c.99C>T	ENSP00000449150.1:p.Ser33=
NM_024312.4:c.99C>T	NP_077288.2:p.Ser33=
XM_006719593.2:c.99C>T	XP_006719656.1:p.Ser33=
XM_006719593.3:c.99C>T	XP_006719656.1:p.Ser33=
XM_017019961.1:c.-100+49C>T	XP_016875450.1:n.-100+49C>T
XM_017019962.2:c.-1252C>T	XP_016875451.1:n.-1252C>T
NM_024312.5:c.99C>T MANE Select	NP_077288.2:p.Ser33=