Canonical Allele Identifier: CA368156811

Gene: GATAD1

Linked Data

• ClinVar Variation Id: 1414569
• ClinVar RCV Id: RCV001930531
• dbSNP Id: rs1789290199
• COSMIC: COSM6254656
• MyVariant Identifiers: chr7:g.92078123G>T (hg19) ; chr7:g.92448809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92448809G>T , CM000669.2:g.92448809G>T	GRCh38
NC_000007.13:g.92078123G>T , CM000669.1:g.92078123G>T	GRCh37
NC_000007.12:g.91916059G>T	NCBI36
NG_032807.1:g.6362G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287957.5:c.307G>T MANE Select	ENSP00000287957.3:p.Ala103Ser
ENST00000644160.1:n.163G>T
ENST00000645746.1:c.307G>T	ENSP00000493785.1:p.Ala103Ser
ENST00000287957.3:c.307G>T	ENSP00000287957.3:p.Ala103Ser
NM_021167.4:c.307G>T	NP_066990.3:p.Ala103Ser
NR_052016.1:n.589G>T
XR_428182.2:n.562G>T
XR_927494.1:n.562G>T
XR_927495.1:n.562G>T
XR_927496.1:n.562G>T
XR_927497.1:n.562G>T
XR_927498.1:n.562G>T
XR_927499.1:n.562G>T
XR_927500.1:n.562G>T
XR_927501.1:n.562G>T
XR_927502.1:n.562G>T
XR_927503.1:n.562G>T
XR_927504.1:n.562G>T
XR_001744842.2:n.589G>T
XR_001744843.2:n.589G>T
XR_002956472.1:n.589G>T
XR_002956473.1:n.589G>T
XR_002956474.1:n.589G>T
XR_002956475.1:n.555G>T
XR_002956476.1:n.555G>T
XR_927494.3:n.589G>T
XR_927500.3:n.589G>T
XR_927503.3:n.589G>T
NM_021167.5:c.307G>T MANE Select	NP_066990.3:p.Ala103Ser
NR_052016.2:n.555G>T