Canonical Allele Identifier: CA386301991

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768117-G-A
• MyVariant Identifiers: chr12:g.102161895G>A (hg19) ; chr12:g.101768117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768117G>A , CM000674.2:g.101768117G>A	GRCh38
NC_000012.11:g.102161895G>A , CM000674.1:g.102161895G>A	GRCh37
NC_000012.10:g.100686026G>A	NCBI36
NG_021243.1:g.67751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1328C>T MANE Select	ENSP00000299314.7:p.Pro443Leu
ENST00000299314.11:c.1328C>T	ENSP00000299314.7:p.Pro443Leu
ENST00000549940.5:c.1328C>T	ENSP00000449150.1:p.Pro443Leu
NM_024312.4:c.1328C>T	NP_077288.2:p.Pro443Leu
XM_006719593.2:c.1328C>T	XP_006719656.1:p.Pro443Leu
XM_011538731.1:c.1247C>T	XP_011537033.1:p.Pro416Leu
XM_006719593.3:c.1328C>T	XP_006719656.1:p.Pro443Leu
XM_011538731.2:c.1247C>T	XP_011537033.1:p.Pro416Leu
XM_017019961.1:c.1112C>T	XP_016875450.1:p.Pro371Leu
XM_017019962.2:c.101C>T	XP_016875451.1:p.Pro34Leu
NM_024312.5:c.1328C>T MANE Select	NP_077288.2:p.Pro443Leu