Canonical Allele Identifier: CA6746865

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2080765
• ClinVar RCV Id: RCV003002176
• dbSNP Id: rs142302101
• ExAC: 12:102179834 G / A
• gnomAD v2: 12-102179834-G-A
• gnomAD v3: 12-101786056-G-A
• gnomAD v4: 12-101786056-G-A
• MyVariant Identifiers: chr12:g.102179834G>A (hg19) ; chr12:g.101786056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786056G>A , CM000674.2:g.101786056G>A	GRCh38
NC_000012.11:g.102179834G>A , CM000674.1:g.102179834G>A	GRCh37
NC_000012.10:g.100703965G>A	NCBI36
NG_021243.1:g.49812C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.527C>T MANE Select	ENSP00000299314.7:p.Pro176Leu
ENST00000299314.11:c.527C>T	ENSP00000299314.7:p.Pro176Leu
ENST00000549940.5:c.527C>T	ENSP00000449150.1:p.Pro176Leu
ENST00000550352.1:n.321C>T
ENST00000552681.1:c.161C>T	ENSP00000449217.1:p.Pro54Leu
NM_024312.4:c.527C>T	NP_077288.2:p.Pro176Leu
XM_006719593.2:c.527C>T	XP_006719656.1:p.Pro176Leu
XM_011538731.1:c.446C>T	XP_011537033.1:p.Pro149Leu
XM_006719593.3:c.527C>T	XP_006719656.1:p.Pro176Leu
XM_011538731.2:c.446C>T	XP_011537033.1:p.Pro149Leu
XM_017019961.1:c.311C>T	XP_016875450.1:p.Pro104Leu
XM_017019962.2:c.-824C>T	XP_016875451.1:n.-824C>T
NM_024312.5:c.527C>T MANE Select	NP_077288.2:p.Pro176Leu