Canonical Allele Identifier: CA8908951
Gene: GATA6 HGNC NCBI

Linked Data

dbSNP Id: rs185623919
ExAC: 18:19761379 A / G
gnomAD v2: 18-19761379-A-G
gnomAD v3: 18-22181418-A-G
gnomAD v4: 18-22181418-A-G
MyVariant Identifiers: chr18:g.19761379A>G (hg19) chr18:g.22181418A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22181418A>G , CM000680.2:g.22181418A>G GRCh38
NC_000018.9:g.19761379A>G , CM000680.1:g.19761379A>G GRCh37
NC_000018.8:g.18015377A>G NCBI36
NG_032677.1:g.16976A>G
NG_032677.2:g.16982A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000269216.10:c.1303-35A>G MANE Select ENSP00000269216.3:n.1303-35A>G
ENST00000269216.7:c.1303-35A>G ENSP00000269216.3:n.1303-35A>G
ENST00000581694.1:c.1303-35A>G ENSP00000462313.1:n.1303-35A>G
NM_005257.5:c.1303-35A>G NP_005248.2:n.1303-35A>G
NM_005257.6:c.1303-35A>G MANE Select NP_005248.2:n.1303-35A>G
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