Canonical Allele Identifier: CA386296258

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155426C>A (hg19) ; chr12:g.101761648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761648C>A , CM000674.2:g.101761648C>A	GRCh38
NC_000012.11:g.102155426C>A , CM000674.1:g.102155426C>A	GRCh37
NC_000012.10:g.100679557C>A	NCBI36
NG_021243.1:g.74220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2831G>T MANE Select	ENSP00000299314.7:p.Ser944Ile
ENST00000299314.11:c.2831G>T	ENSP00000299314.7:p.Ser944Ile
NM_024312.4:c.2831G>T	NP_077288.2:p.Ser944Ile
XM_006719593.2:c.2831G>T	XP_006719656.1:p.Ser944Ile
XM_011538731.1:c.2750G>T	XP_011537033.1:p.Ser917Ile
XM_006719593.3:c.2831G>T	XP_006719656.1:p.Ser944Ile
XM_011538731.2:c.2750G>T	XP_011537033.1:p.Ser917Ile
XM_017019961.1:c.2615G>T	XP_016875450.1:p.Ser872Ile
XM_017019962.2:c.1604G>T	XP_016875451.1:p.Ser535Ile
NM_024312.5:c.2831G>T MANE Select	NP_077288.2:p.Ser944Ile