Canonical Allele Identifier: CA242480850

Gene: GNPTAB

Linked Data

• dbSNP Id: rs768410218
• gnomAD v4: 12-101796617-G-A
• MyVariant Identifiers: chr12:g.102190395G>A (hg19) ; chr12:g.101796617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796617G>A , CM000674.2:g.101796617G>A	GRCh38
NC_000012.11:g.102190395G>A , CM000674.1:g.102190395G>A	GRCh37
NC_000012.10:g.100714526G>A	NCBI36
NG_021243.1:g.39251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+60C>T MANE Select	ENSP00000299314.7:n.203+60C>T
ENST00000647144.1:n.323+60C>T
ENST00000299314.11:c.203+60C>T	ENSP00000299314.7:n.203+60C>T
ENST00000392919.4:c.203+60C>T	ENSP00000376651.4:n.203+60C>T
ENST00000549165.1:c.*56C>T	ENSP00000450413.1:n.*56C>T
ENST00000549940.5:c.203+60C>T	ENSP00000449150.1:n.203+60C>T
NM_024312.4:c.203+60C>T	NP_077288.2:n.203+60C>T
XM_006719593.2:c.203+60C>T	XP_006719656.1:n.203+60C>T
XM_011538731.1:c.122+60C>T	XP_011537033.1:n.122+60C>T
XM_006719593.3:c.203+60C>T	XP_006719656.1:n.203+60C>T
XM_011538731.2:c.122+60C>T	XP_011537033.1:n.122+60C>T
XM_017019961.1:c.-14+60C>T	XP_016875450.1:n.-14+60C>T
XM_017019962.2:c.-1148+60C>T	XP_016875451.1:n.-1148+60C>T
NM_024312.5:c.203+60C>T MANE Select	NP_077288.2:n.203+60C>T