Canonical Allele Identifier: CA386292252

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147190A>T (hg19) ; chr12:g.101753412A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753412A>T , CM000674.2:g.101753412A>T	GRCh38
NC_000012.11:g.102147190A>T , CM000674.1:g.102147190A>T	GRCh37
NC_000012.10:g.100671321A>T	NCBI36
NG_021243.1:g.82456T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3562T>A MANE Select	ENSP00000299314.7:p.Tyr1188Asn
ENST00000299314.11:c.3562T>A	ENSP00000299314.7:p.Tyr1188Asn
ENST00000549738.5:c.460T>A	ENSP00000450161.1:n.460T>A
NM_024312.4:c.3562T>A	NP_077288.2:p.Tyr1188Asn
XM_011538731.1:c.3481T>A	XP_011537033.1:p.Tyr1161Asn
XM_011538731.2:c.3481T>A	XP_011537033.1:p.Tyr1161Asn
XM_017019961.1:c.3346T>A	XP_016875450.1:p.Tyr1116Asn
XM_017019962.2:c.2335T>A	XP_016875451.1:p.Tyr779Asn
NM_024312.5:c.3562T>A MANE Select	NP_077288.2:p.Tyr1188Asn