Canonical Allele Identifier: CA242444623

Gene: GNPTAB CHPT1

Linked Data

• ClinVar Variation Id: 504892
• ClinVar RCV Id: RCV000612152 ; RCV001860237
• dbSNP Id: rs35576380
• gnomAD v4: 12-101749192-C-T
• MyVariant Identifiers: chr12:g.102142970C>T (hg19) ; chr12:g.101749192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101749192C>T , CM000674.2:g.101749192C>T	GRCh38
NC_000012.11:g.102142970C>T , CM000674.1:g.102142970C>T	GRCh37
NC_000012.10:g.100667101C>T	NCBI36
NG_021243.1:g.86676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3603-1G>A (GNPTAB) MANE Select	ENSP00000299314.7:n.3603-1G>A
ENST00000299314.11:c.3603-1G>A (GNPTAB)	ENSP00000299314.7:n.3603-1G>A
ENST00000549738.5:c.501-1G>A (GNPTAB)	ENSP00000450161.1:n.501-1G>A
NM_024312.4:c.3603-1G>A (GNPTAB)	NP_077288.2:n.3603-1G>A
XM_011538731.1:c.3522-1G>A (GNPTAB)	XP_011537033.1:n.3522-1G>A
XM_011538731.2:c.3522-1G>A (GNPTAB)	XP_011537033.1:n.3522-1G>A
XM_017019961.1:c.3387-1G>A (GNPTAB)	XP_016875450.1:n.3387-1G>A
XM_017019962.2:c.2376-1G>A (GNPTAB)	XP_016875451.1:n.2376-1G>A
XR_001748817.1:n.3657C>T (CHPT1)
NM_024312.5:c.3603-1G>A (GNPTAB) MANE Select	NP_077288.2:n.3603-1G>A