Canonical Allele Identifier: CA6746392

Gene: GNPTAB

Linked Data

• dbSNP Id: rs746870755
• ExAC: 12:102158017 G / A
• gnomAD v2: 12-102158017-G-A
• gnomAD v4: 12-101764239-G-A
• COSMIC: COSM3455160
• MyVariant Identifiers: chr12:g.102158017G>A (hg19) ; chr12:g.101764239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764239G>A , CM000674.2:g.101764239G>A	GRCh38
NC_000012.11:g.102158017G>A , CM000674.1:g.102158017G>A	GRCh37
NC_000012.10:g.100682148G>A	NCBI36
NG_021243.1:g.71629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2678C>T MANE Select	ENSP00000299314.7:p.Pro893Leu
ENST00000299314.11:c.2678C>T	ENSP00000299314.7:p.Pro893Leu
NM_024312.4:c.2678C>T	NP_077288.2:p.Pro893Leu
XM_006719593.2:c.2678C>T	XP_006719656.1:p.Pro893Leu
XM_011538731.1:c.2597C>T	XP_011537033.1:p.Pro866Leu
XM_006719593.3:c.2678C>T	XP_006719656.1:p.Pro893Leu
XM_011538731.2:c.2597C>T	XP_011537033.1:p.Pro866Leu
XM_017019961.1:c.2462C>T	XP_016875450.1:p.Pro821Leu
XM_017019962.2:c.1451C>T	XP_016875451.1:p.Pro484Leu
NM_024312.5:c.2678C>T MANE Select	NP_077288.2:p.Pro893Leu