Canonical Allele Identifier: CA2332565880

Gene: GPATCH1

Genomic Alleles

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

Transcript Alleles

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