Canonical Allele Identifier: CA628754051
Gene: GATA6 HGNC NCBI

Linked Data

dbSNP Id: rs1251187370
gnomAD v2: 18-19761385-T-C
gnomAD v4: 18-22181424-T-C
MyVariant Identifiers: chr18:g.19761385T>C (hg19) chr18:g.22181424T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22181424T>C , CM000680.2:g.22181424T>C GRCh38
NC_000018.9:g.19761385T>C , CM000680.1:g.19761385T>C GRCh37
NC_000018.8:g.18015383T>C NCBI36
NG_032677.1:g.16982T>C
NG_032677.2:g.16988T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269216.10:c.1303-29T>C MANE Select ENSP00000269216.3:n.1303-29T>C
ENST00000269216.7:c.1303-29T>C ENSP00000269216.3:n.1303-29T>C
ENST00000581694.1:c.1303-29T>C ENSP00000462313.1:n.1303-29T>C
NM_005257.5:c.1303-29T>C NP_005248.2:n.1303-29T>C
NM_005257.6:c.1303-29T>C MANE Select NP_005248.2:n.1303-29T>C
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