Canonical Allele Identifier: CA386302084

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161924C>A (hg19) ; chr12:g.101768146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768146C>A , CM000674.2:g.101768146C>A	GRCh38
NC_000012.11:g.102161924C>A , CM000674.1:g.102161924C>A	GRCh37
NC_000012.10:g.100686055C>A	NCBI36
NG_021243.1:g.67722G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1299G>T MANE Select	ENSP00000299314.7:p.Trp433Cys
ENST00000299314.11:c.1299G>T	ENSP00000299314.7:p.Trp433Cys
ENST00000549940.5:c.1299G>T	ENSP00000449150.1:p.Trp433Cys
NM_024312.4:c.1299G>T	NP_077288.2:p.Trp433Cys
XM_006719593.2:c.1299G>T	XP_006719656.1:p.Trp433Cys
XM_011538731.1:c.1218G>T	XP_011537033.1:p.Trp406Cys
XM_006719593.3:c.1299G>T	XP_006719656.1:p.Trp433Cys
XM_011538731.2:c.1218G>T	XP_011537033.1:p.Trp406Cys
XM_017019961.1:c.1083G>T	XP_016875450.1:p.Trp361Cys
XM_017019962.2:c.72G>T	XP_016875451.1:p.Trp24Cys
NM_024312.5:c.1299G>T MANE Select	NP_077288.2:p.Trp433Cys