Canonical Allele Identifier: CA6746055

Gene: GNPTAB CHPT1

Linked Data

• ClinVar Variation Id: 306793
• ClinVar RCV Id: RCV000298245 ; RCV000891973 ; RCV000403989
• dbSNP Id: rs150841760
• ExAC: 12:102141003 C / T
• gnomAD v2: 12-102141003-C-T
• gnomAD v3: 12-101747225-C-T
• gnomAD v4: 12-101747225-C-T
• MyVariant Identifiers: chr12:g.102141003C>T (hg19) ; chr12:g.101747225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101747225C>T , CM000674.2:g.101747225C>T	GRCh38
NC_000012.11:g.102141003C>T , CM000674.1:g.102141003C>T	GRCh37
NC_000012.10:g.100665134C>T	NCBI36
NG_021243.1:g.88643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3710G>A (GNPTAB) MANE Select	ENSP00000299314.7:p.Arg1237Gln
ENST00000299314.11:c.3710G>A (GNPTAB)	ENSP00000299314.7:p.Arg1237Gln
NM_024312.4:c.3710G>A (GNPTAB)	NP_077288.2:p.Arg1237Gln
XM_011538731.1:c.3629G>A (GNPTAB)	XP_011537033.1:p.Arg1210Gln
XM_011538731.2:c.3629G>A (GNPTAB)	XP_011537033.1:p.Arg1210Gln
XM_017019961.1:c.3494G>A (GNPTAB)	XP_016875450.1:p.Arg1165Gln
XM_017019962.2:c.2483G>A (GNPTAB)	XP_016875451.1:p.Arg828Gln
XR_001748817.1:n.3015-1325C>T (CHPT1)
NM_024312.5:c.3710G>A (GNPTAB) MANE Select	NP_077288.2:p.Arg1237Gln