Canonical Allele Identifier: CA386305768

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102190512T>A (hg19) ; chr12:g.101796734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796734T>A , CM000674.2:g.101796734T>A	GRCh38
NC_000012.11:g.102190512T>A , CM000674.1:g.102190512T>A	GRCh37
NC_000012.10:g.100714643T>A	NCBI36
NG_021243.1:g.39134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.146A>T MANE Select	ENSP00000299314.7:p.Tyr49Phe
ENST00000647144.1:n.266A>T
ENST00000299314.11:c.146A>T	ENSP00000299314.7:p.Tyr49Phe
ENST00000392919.4:c.146A>T	ENSP00000376651.4:p.Tyr49Phe
ENST00000549165.1:c.146A>T	ENSP00000450413.1:p.Tyr49Phe
ENST00000549940.5:c.146A>T	ENSP00000449150.1:p.Tyr49Phe
NM_024312.4:c.146A>T	NP_077288.2:p.Tyr49Phe
XM_006719593.2:c.146A>T	XP_006719656.1:p.Tyr49Phe
XM_011538731.1:c.65A>T	XP_011537033.1:p.Tyr22Phe
XM_006719593.3:c.146A>T	XP_006719656.1:p.Tyr49Phe
XM_011538731.2:c.65A>T	XP_011537033.1:p.Tyr22Phe
XM_017019961.1:c.-71A>T	XP_016875450.1:n.-71A>T
XM_017019962.2:c.-1205A>T	XP_016875451.1:n.-1205A>T
NM_024312.5:c.146A>T MANE Select	NP_077288.2:p.Tyr49Phe