Canonical Allele Identifier: CA297154003
Gene: GATA6 HGNC NCBI

Linked Data

dbSNP Id: rs776570347
gnomAD v4: 18-22181440-G-A
MyVariant Identifiers: chr18:g.19761401G>A (hg19) chr18:g.22181440G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22181440G>A , CM000680.2:g.22181440G>A GRCh38
NC_000018.9:g.19761401G>A , CM000680.1:g.19761401G>A GRCh37
NC_000018.8:g.18015399G>A NCBI36
NG_032677.1:g.16998G>A
NG_032677.2:g.17004G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269216.10:c.1303-13G>A MANE Select ENSP00000269216.3:n.1303-13G>A
ENST00000269216.7:c.1303-13G>A ENSP00000269216.3:n.1303-13G>A
ENST00000581694.1:c.1303-13G>A ENSP00000462313.1:n.1303-13G>A
NM_005257.5:c.1303-13G>A NP_005248.2:n.1303-13G>A
NM_005257.6:c.1303-13G>A MANE Select NP_005248.2:n.1303-13G>A
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