Canonical Allele Identifier: CA386296128

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155364C>A (hg19) ; chr12:g.101761586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761586C>A , CM000674.2:g.101761586C>A	GRCh38
NC_000012.11:g.102155364C>A , CM000674.1:g.102155364C>A	GRCh37
NC_000012.10:g.100679495C>A	NCBI36
NG_021243.1:g.74282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2893G>T MANE Select	ENSP00000299314.7:p.Val965Phe
ENST00000299314.11:c.2893G>T	ENSP00000299314.7:p.Val965Phe
NM_024312.4:c.2893G>T	NP_077288.2:p.Val965Phe
XM_006719593.2:c.2893G>T	XP_006719656.1:p.Val965Phe
XM_011538731.1:c.2812G>T	XP_011537033.1:p.Val938Phe
XM_006719593.3:c.2893G>T	XP_006719656.1:p.Val965Phe
XM_011538731.2:c.2812G>T	XP_011537033.1:p.Val938Phe
XM_017019961.1:c.2677G>T	XP_016875450.1:p.Val893Phe
XM_017019962.2:c.1666G>T	XP_016875451.1:p.Val556Phe
NM_024312.5:c.2893G>T MANE Select	NP_077288.2:p.Val965Phe