Canonical Allele Identifier: CA201810

Gene: GNPTAB CHPT1

Linked Data

• ClinVar Variation Id: 195529
• ClinVar RCV Id: RCV000176114 ; RCV000277070 ; RCV000353103 ; RCV000588876 ; RCV001517712
• dbSNP Id: rs76021817
• ExAC: 12:102142869 T / A
• gnomAD v2: 12-102142869-T-A
• gnomAD v3: 12-101749091-T-A
• gnomAD v4: 12-101749091-T-A
• MyVariant Identifiers: chr12:g.102142869T>A (hg19) ; chr12:g.102142869_102142870delinsAA (hg19) ; chr12:g.101749091T>A (hg38) ; chr12:g.101749091_101749092delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101749091T>A , CM000674.2:g.101749091T>A	GRCh38
NC_000012.11:g.102142869T>A , CM000674.1:g.102142869T>A	GRCh37
NC_000012.10:g.100667000T>A	NCBI36
NG_021243.1:g.86777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3693+10A>T (GNPTAB) MANE Select	ENSP00000299314.7:n.3693+10A>T
ENST00000299314.11:c.3693+10A>T (GNPTAB)	ENSP00000299314.7:n.3693+10A>T
NM_024312.4:c.3693+10A>T (GNPTAB)	NP_077288.2:n.3693+10A>T
XM_011538731.1:c.3612+10A>T (GNPTAB)	XP_011537033.1:n.3612+10A>T
XM_011538731.2:c.3612+10A>T (GNPTAB)	XP_011537033.1:n.3612+10A>T
XM_017019961.1:c.3477+10A>T (GNPTAB)	XP_016875450.1:n.3477+10A>T
XM_017019962.2:c.2466+10A>T (GNPTAB)	XP_016875451.1:n.2466+10A>T
XR_001748817.1:n.3556T>A (CHPT1)
NM_024312.5:c.3693+10A>T (GNPTAB) MANE Select	NP_077288.2:n.3693+10A>T