Canonical Allele Identifier: CA386294618

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153827G>A (hg19) ; chr12:g.101760049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760049G>A , CM000674.2:g.101760049G>A	GRCh38
NC_000012.11:g.102153827G>A , CM000674.1:g.102153827G>A	GRCh37
NC_000012.10:g.100677958G>A	NCBI36
NG_021243.1:g.75819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3230C>T MANE Select	ENSP00000299314.7:p.Ser1077Phe
ENST00000299314.11:c.3230C>T	ENSP00000299314.7:p.Ser1077Phe
ENST00000549194.1:n.96C>T
ENST00000550718.1:c.42C>T
NM_024312.4:c.3230C>T	NP_077288.2:p.Ser1077Phe
XM_006719593.2:c.3230C>T	XP_006719656.1:p.Ser1077Phe
XM_011538731.1:c.3149C>T	XP_011537033.1:p.Ser1050Phe
XM_006719593.3:c.3230C>T	XP_006719656.1:p.Ser1077Phe
XM_011538731.2:c.3149C>T	XP_011537033.1:p.Ser1050Phe
XM_017019961.1:c.3014C>T	XP_016875450.1:p.Ser1005Phe
XM_017019962.2:c.2003C>T	XP_016875451.1:p.Ser668Phe
NM_024312.5:c.3230C>T MANE Select	NP_077288.2:p.Ser1077Phe