Canonical Allele Identifier: CA386295489

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761228G>A , CM000674.2:g.101761228G>A	GRCh38
NC_000012.11:g.102155006G>A , CM000674.1:g.102155006G>A	GRCh37
NC_000012.10:g.100679137G>A	NCBI36
NG_021243.1:g.74640C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3034C>T MANE Select	NP_077288.2:p.Gln1012Ter
ENST00000299314.12:c.3034C>T MANE Select	ENSP00000299314.7:p.Gln1012Ter
NM_024312.4:c.3034C>T	NP_077288.2:p.Gln1012Ter
ENST00000299314.11:c.3034C>T	ENSP00000299314.7:p.Gln1012Ter
XM_006719593.2:c.3034C>T	XP_006719656.1:p.Gln1012Ter
XM_006719593.3:c.3034C>T	XP_006719656.1:p.Gln1012Ter
XM_011538731.1:c.2953C>T	XP_011537033.1:p.Gln985Ter
XM_011538731.2:c.2953C>T	XP_011537033.1:p.Gln985Ter
XM_017019961.1:c.2818C>T	XP_016875450.1:p.Gln940Ter
XM_017019962.2:c.1807C>T	XP_016875451.1:p.Gln603Ter