Canonical Allele Identifier: CA386292107

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147150C>A (hg19) ; chr12:g.101753372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753372C>A , CM000674.2:g.101753372C>A	GRCh38
NC_000012.11:g.102147150C>A , CM000674.1:g.102147150C>A	GRCh37
NC_000012.10:g.100671281C>A	NCBI36
NG_021243.1:g.82496G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3602G>T MANE Select	ENSP00000299314.7:p.Trp1201Leu
ENST00000299314.11:c.3602G>T	ENSP00000299314.7:p.Trp1201Leu
ENST00000549738.5:c.500G>T	ENSP00000450161.1:n.500G>T
NM_024312.4:c.3602G>T	NP_077288.2:p.Trp1201Leu
XM_011538731.1:c.3521G>T	XP_011537033.1:p.Trp1174Leu
XM_011538731.2:c.3521G>T	XP_011537033.1:p.Trp1174Leu
XM_017019961.1:c.3386G>T	XP_016875450.1:p.Trp1129Leu
XM_017019962.2:c.2375G>T	XP_016875451.1:p.Trp792Leu
NM_024312.5:c.3602G>T MANE Select	NP_077288.2:p.Trp1201Leu