Canonical Allele Identifier: CA988266716

Gene: GATA6

Linked Data

• dbSNP Id: rs2033194649
• gnomAD v3: 18-22181443-C-T
• gnomAD v4: 18-22181443-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22181443C>T , CM000680.2:g.22181443C>T	GRCh38
NC_000018.9:g.19761404C>T , CM000680.1:g.19761404C>T	GRCh37
NC_000018.8:g.18015402C>T	NCBI36
NG_032677.1:g.17001C>T
NG_032677.2:g.17007C>T

Transcript Alleles

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