Canonical Allele Identifier: CA6746362

Gene: GNPTAB

Linked Data

• dbSNP Id: rs752236574
• ExAC: 12:102155562 G / A
• gnomAD v2: 12-102155562-G-A
• MyVariant Identifiers: chr12:g.102155562G>A (hg19) ; chr12:g.101761784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761784G>A , CM000674.2:g.101761784G>A	GRCh38
NC_000012.11:g.102155562G>A , CM000674.1:g.102155562G>A	GRCh37
NC_000012.10:g.100679693G>A	NCBI36
NG_021243.1:g.74084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-21C>T MANE Select	ENSP00000299314.7:n.2716-21C>T
ENST00000299314.11:c.2716-21C>T	ENSP00000299314.7:n.2716-21C>T
NM_024312.4:c.2716-21C>T	NP_077288.2:n.2716-21C>T
XM_006719593.2:c.2716-21C>T	XP_006719656.1:n.2716-21C>T
XM_011538731.1:c.2635-21C>T	XP_011537033.1:n.2635-21C>T
XM_006719593.3:c.2716-21C>T	XP_006719656.1:n.2716-21C>T
XM_011538731.2:c.2635-21C>T	XP_011537033.1:n.2635-21C>T
XM_017019961.1:c.2500-21C>T	XP_016875450.1:n.2500-21C>T
XM_017019962.2:c.1489-21C>T	XP_016875451.1:n.1489-21C>T
NM_024312.5:c.2716-21C>T MANE Select	NP_077288.2:n.2716-21C>T