Canonical Allele Identifier: CA386303176

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770488-C-A
• MyVariant Identifiers: chr12:g.102164266C>A (hg19) ; chr12:g.101770488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770488C>A , CM000674.2:g.101770488C>A	GRCh38
NC_000012.11:g.102164266C>A , CM000674.1:g.102164266C>A	GRCh37
NC_000012.10:g.100688397C>A	NCBI36
NG_021243.1:g.65380G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1031G>T MANE Select	ENSP00000299314.7:p.Arg344Leu
ENST00000299314.11:c.1031G>T	ENSP00000299314.7:p.Arg344Leu
ENST00000549940.5:c.1031G>T	ENSP00000449150.1:p.Arg344Leu
NM_024312.4:c.1031G>T	NP_077288.2:p.Arg344Leu
XM_006719593.2:c.1031G>T	XP_006719656.1:p.Arg344Leu
XM_011538731.1:c.950G>T	XP_011537033.1:p.Arg317Leu
XM_006719593.3:c.1031G>T	XP_006719656.1:p.Arg344Leu
XM_011538731.2:c.950G>T	XP_011537033.1:p.Arg317Leu
XM_017019961.1:c.815G>T	XP_016875450.1:p.Arg272Leu
XM_017019962.2:c.-197G>T	XP_016875451.1:n.-197G>T
NM_024312.5:c.1031G>T MANE Select	NP_077288.2:p.Arg344Leu