Canonical Allele Identifier: CA14659211

Gene: GPATCH1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33108221T>C , CM000681.2:g.33108221T>C	GRCh38
NC_000019.9:g.33599127T>C , CM000681.1:g.33599127T>C	GRCh37
NC_000019.8:g.38290967T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000170564.7:c.1285+1322T>C MANE Select	ENSP00000170564.1:n.1285+1322T>C
ENST00000170564.6:c.1285+1322T>C	ENSP00000170564.1:n.1285+1322T>C
ENST00000592165.1:c.*741+1322T>C	ENSP00000467632.1:n.*741+1322T>C
NM_018025.2:c.1285+1322T>C	NP_060495.2:n.1285+1322T>C
XM_006723255.2:c.1285+1322T>C	XP_006723318.1:n.1285+1322T>C
XM_011527056.1:c.1285+1322T>C	XP_011525358.1:n.1285+1322T>C
NR_135270.1:n.1599+1322T>C
XM_006723255.4:c.1285+1322T>C	XP_006723318.1:n.1285+1322T>C
NM_018025.3:c.1285+1322T>C MANE Select	NP_060495.2:n.1285+1322T>C
NR_135270.2:n.1298+1322T>C