Canonical Allele Identifier: CA386303265

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770526G>T , CM000674.2:g.101770526G>T	GRCh38
NC_000012.11:g.102164304G>T , CM000674.1:g.102164304G>T	GRCh37
NC_000012.10:g.100688435G>T	NCBI36
NG_021243.1:g.65342C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.993C>A MANE Select	NP_077288.2:p.Tyr331Ter
ENST00000299314.12:c.993C>A MANE Select	ENSP00000299314.7:p.Tyr331Ter
NM_024312.4:c.993C>A	NP_077288.2:p.Tyr331Ter
ENST00000299314.11:c.993C>A	ENSP00000299314.7:p.Tyr331Ter
ENST00000549940.5:c.993C>A	ENSP00000449150.1:p.Tyr331Ter
XM_006719593.2:c.993C>A	XP_006719656.1:p.Tyr331Ter
XM_006719593.3:c.993C>A	XP_006719656.1:p.Tyr331Ter
XM_011538731.1:c.912C>A	XP_011537033.1:p.Tyr304Ter
XM_011538731.2:c.912C>A	XP_011537033.1:p.Tyr304Ter
XM_017019961.1:c.777C>A	XP_016875450.1:p.Tyr259Ter
XM_017019962.2:c.-235C>A	XP_016875451.1:n.-235C>A