Canonical Allele Identifier: CA456481201

Gene: GATAD1

Linked Data

• dbSNP Id: rs752121278
• gnomAD v2: 7-92078128-G-C
• gnomAD v4: 7-92448814-G-C
• MyVariant Identifiers: chr7:g.92078128G>C (hg19) ; chr7:g.92448814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92448814G>C , CM000669.2:g.92448814G>C	GRCh38
NC_000007.13:g.92078128G>C , CM000669.1:g.92078128G>C	GRCh37
NC_000007.12:g.91916064G>C	NCBI36
NG_032807.1:g.6367G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287957.5:c.312G>C MANE Select	ENSP00000287957.3:p.Pro104=
ENST00000644160.1:n.168G>C
ENST00000645746.1:c.312G>C	ENSP00000493785.1:p.Pro104=
ENST00000287957.3:c.312G>C	ENSP00000287957.3:p.Pro104=
NM_021167.4:c.312G>C	NP_066990.3:p.Pro104=
NR_052016.1:n.594G>C
XR_428182.2:n.567G>C
XR_927494.1:n.567G>C
XR_927495.1:n.567G>C
XR_927496.1:n.567G>C
XR_927497.1:n.567G>C
XR_927498.1:n.567G>C
XR_927499.1:n.567G>C
XR_927500.1:n.567G>C
XR_927501.1:n.567G>C
XR_927502.1:n.567G>C
XR_927503.1:n.567G>C
XR_927504.1:n.567G>C
XR_001744842.2:n.594G>C
XR_001744843.2:n.594G>C
XR_002956472.1:n.594G>C
XR_002956473.1:n.594G>C
XR_002956474.1:n.594G>C
XR_002956475.1:n.560G>C
XR_002956476.1:n.560G>C
XR_927494.3:n.594G>C
XR_927500.3:n.594G>C
XR_927503.3:n.594G>C
NM_021167.5:c.312G>C MANE Select	NP_066990.3:p.Pro104=
NR_052016.2:n.560G>C