Canonical Allele Identifier: CA386298538

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764612G>A , CM000674.2:g.101764612G>A	GRCh38
NC_000012.11:g.102158390G>A , CM000674.1:g.102158390G>A	GRCh37
NC_000012.10:g.100682521G>A	NCBI36
NG_021243.1:g.71256C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2305C>T MANE Select	NP_077288.2:p.Gln769Ter
ENST00000299314.12:c.2305C>T MANE Select	ENSP00000299314.7:p.Gln769Ter
NM_024312.4:c.2305C>T	NP_077288.2:p.Gln769Ter
ENST00000299314.11:c.2305C>T	ENSP00000299314.7:p.Gln769Ter
XM_006719593.2:c.2305C>T	XP_006719656.1:p.Gln769Ter
XM_006719593.3:c.2305C>T	XP_006719656.1:p.Gln769Ter
XM_011538731.1:c.2224C>T	XP_011537033.1:p.Gln742Ter
XM_011538731.2:c.2224C>T	XP_011537033.1:p.Gln742Ter
XM_017019961.1:c.2089C>T	XP_016875450.1:p.Gln697Ter
XM_017019962.2:c.1078C>T	XP_016875451.1:p.Gln360Ter