Canonical Allele Identifier: CA386293940

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151414C>A (hg19) ; chr12:g.101757636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757636C>A , CM000674.2:g.101757636C>A	GRCh38
NC_000012.11:g.102151414C>A , CM000674.1:g.102151414C>A	GRCh37
NC_000012.10:g.100675545C>A	NCBI36
NG_021243.1:g.78232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3271G>T MANE Select	ENSP00000299314.7:p.Val1091Leu
ENST00000299314.11:c.3271G>T	ENSP00000299314.7:p.Val1091Leu
ENST00000549194.1:n.137G>T
ENST00000549738.5:c.22G>T	ENSP00000450161.1:p.Val8Leu
ENST00000550718.1:c.83G>T
NM_024312.4:c.3271G>T	NP_077288.2:p.Val1091Leu
XM_006719593.2:c.3271G>T	XP_006719656.1:p.Val1091Leu
XM_011538731.1:c.3190G>T	XP_011537033.1:p.Val1064Leu
XM_006719593.3:c.3271G>T	XP_006719656.1:p.Val1091Leu
XM_011538731.2:c.3190G>T	XP_011537033.1:p.Val1064Leu
XM_017019961.1:c.3055G>T	XP_016875450.1:p.Val1019Leu
XM_017019962.2:c.2044G>T	XP_016875451.1:p.Val682Leu
NM_024312.5:c.3271G>T MANE Select	NP_077288.2:p.Val1091Leu