Canonical Allele Identifier: CA386295397

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102154991C>T (hg19) ; chr12:g.101761213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761213C>T , CM000674.2:g.101761213C>T	GRCh38
NC_000012.11:g.102154991C>T , CM000674.1:g.102154991C>T	GRCh37
NC_000012.10:g.100679122C>T	NCBI36
NG_021243.1:g.74655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3049G>A MANE Select	ENSP00000299314.7:p.Val1017Ile
ENST00000299314.11:c.3049G>A	ENSP00000299314.7:p.Val1017Ile
NM_024312.4:c.3049G>A	NP_077288.2:p.Val1017Ile
XM_006719593.2:c.3049G>A	XP_006719656.1:p.Val1017Ile
XM_011538731.1:c.2968G>A	XP_011537033.1:p.Val990Ile
XM_006719593.3:c.3049G>A	XP_006719656.1:p.Val1017Ile
XM_011538731.2:c.2968G>A	XP_011537033.1:p.Val990Ile
XM_017019961.1:c.2833G>A	XP_016875450.1:p.Val945Ile
XM_017019962.2:c.1822G>A	XP_016875451.1:p.Val608Ile
NM_024312.5:c.3049G>A MANE Select	NP_077288.2:p.Val1017Ile