Canonical Allele Identifier: CA6746886

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1158647
• ClinVar RCV Id: RCV001502114
• dbSNP Id: rs746886323
• ExAC: 12:102179941 G / A
• gnomAD v2: 12-102179941-G-A
• gnomAD v4: 12-101786163-G-A
• MyVariant Identifiers: chr12:g.102179941G>A (hg19) ; chr12:g.101786163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786163G>A , CM000674.2:g.101786163G>A	GRCh38
NC_000012.11:g.102179941G>A , CM000674.1:g.102179941G>A	GRCh37
NC_000012.10:g.100704072G>A	NCBI36
NG_021243.1:g.49705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.420C>T MANE Select	ENSP00000299314.7:p.Val140=
ENST00000299314.11:c.420C>T	ENSP00000299314.7:p.Val140=
ENST00000549940.5:c.420C>T	ENSP00000449150.1:p.Val140=
ENST00000550352.1:n.214C>T
ENST00000552681.1:c.54C>T	ENSP00000449217.1:p.Val18=
NM_024312.4:c.420C>T	NP_077288.2:p.Val140=
XM_006719593.2:c.420C>T	XP_006719656.1:p.Val140=
XM_011538731.1:c.339C>T	XP_011537033.1:p.Val113=
XM_006719593.3:c.420C>T	XP_006719656.1:p.Val140=
XM_011538731.2:c.339C>T	XP_011537033.1:p.Val113=
XM_017019961.1:c.204C>T	XP_016875450.1:p.Val68=
XM_017019962.2:c.-931C>T	XP_016875451.1:n.-931C>T
NM_024312.5:c.420C>T MANE Select	NP_077288.2:p.Val140=