Canonical Allele Identifier: CA6746656

Gene: GNPTAB

Linked Data

• dbSNP Id: rs143228265
• ExAC: 12:102161923 G / A
• gnomAD v2: 12-102161923-G-A
• gnomAD v3: 12-101768145-G-A
• gnomAD v4: 12-101768145-G-A
• MyVariant Identifiers: chr12:g.102161923G>A (hg19) ; chr12:g.101768145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768145G>A , CM000674.2:g.101768145G>A	GRCh38
NC_000012.11:g.102161923G>A , CM000674.1:g.102161923G>A	GRCh37
NC_000012.10:g.100686054G>A	NCBI36
NG_021243.1:g.67723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1300C>T MANE Select	ENSP00000299314.7:p.Pro434Ser
ENST00000299314.11:c.1300C>T	ENSP00000299314.7:p.Pro434Ser
ENST00000549940.5:c.1300C>T	ENSP00000449150.1:p.Pro434Ser
NM_024312.4:c.1300C>T	NP_077288.2:p.Pro434Ser
XM_006719593.2:c.1300C>T	XP_006719656.1:p.Pro434Ser
XM_011538731.1:c.1219C>T	XP_011537033.1:p.Pro407Ser
XM_006719593.3:c.1300C>T	XP_006719656.1:p.Pro434Ser
XM_011538731.2:c.1219C>T	XP_011537033.1:p.Pro407Ser
XM_017019961.1:c.1084C>T	XP_016875450.1:p.Pro362Ser
XM_017019962.2:c.73C>T	XP_016875451.1:p.Pro25Ser
NM_024312.5:c.1300C>T MANE Select	NP_077288.2:p.Pro434Ser