Canonical Allele Identifier: CA129032
Gene: GATA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 30216
ClinVar RCV Id: RCV000023138
dbSNP Id: rs387906820
MyVariant Identifiers: chr18:g.19761510G>A (hg19) chr18:g.22181549G>A (hg38)
PubMed: PMID:22158542
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22181549G>A , CM000680.2:g.22181549G>A GRCh38
NC_000018.9:g.19761510G>A , CM000680.1:g.19761510G>A GRCh37
NC_000018.8:g.18015508G>A NCBI36
NG_032677.1:g.17107G>A
NG_032677.2:g.17113G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269216.10:c.1399G>A MANE Select ENSP00000269216.3:p.Ala467Thr
ENST00000269216.7:c.1399G>A ENSP00000269216.3:p.Ala467Thr
ENST00000581694.1:c.1399G>A ENSP00000462313.1:p.Ala467Thr
NM_005257.5:c.1399G>A NP_005248.2:p.Ala467Thr
NM_005257.6:c.1399G>A MANE Select NP_005248.2:p.Ala467Thr
Search 100 bp 5'
Search 100 bp 3'