Canonical Allele Identifier: CA16609423

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397574
• ClinVar RCV Id: RCV000449550
• dbSNP Id: rs1060499689
• MyVariant Identifiers: chr12:g.102147213G>A (hg19) ; chr12:g.101753435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753435G>A , CM000674.2:g.101753435G>A	GRCh38
NC_000012.11:g.102147213G>A , CM000674.1:g.102147213G>A	GRCh37
NC_000012.10:g.100671344G>A	NCBI36
NG_021243.1:g.82433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3539C>T MANE Select	ENSP00000299314.7:p.Ser1180Phe
ENST00000299314.11:c.3539C>T	ENSP00000299314.7:p.Ser1180Phe
ENST00000549738.5:c.437C>T	ENSP00000450161.1:n.437C>T
NM_024312.4:c.3539C>T	NP_077288.2:p.Ser1180Phe
XM_011538731.1:c.3458C>T	XP_011537033.1:p.Ser1153Phe
XM_011538731.2:c.3458C>T	XP_011537033.1:p.Ser1153Phe
XM_017019961.1:c.3323C>T	XP_016875450.1:p.Ser1108Phe
XM_017019962.2:c.2312C>T	XP_016875451.1:p.Ser771Phe
NM_024312.5:c.3539C>T MANE Select	NP_077288.2:p.Ser1180Phe