Canonical Allele Identifier: CA370602771
Gene: NKX2-6 HGNC NCBI

Linked Data

gnomAD v4: 8-23702812-T-G
MyVariant Identifiers: chr8:g.23560325T>G (hg19) chr8:g.23702812T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702812T>G , CM000670.2:g.23702812T>G GRCh38
NC_000008.10:g.23560325T>G , CM000670.1:g.23560325T>G GRCh37
NC_000008.9:g.23616270T>G NCBI36
NG_030636.1:g.8787A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325017.4:c.545A>C MANE Select ENSP00000320089.3:p.Asn182Thr
ENST00000325017.3:c.545A>C ENSP00000320089.3:p.Asn182Thr
NM_001136271.2:c.545A>C NP_001129743.2:p.Asn182Thr
XR_001745842.1:n.1312+34062T>G
NM_001136271.3:c.545A>C MANE Select NP_001129743.2:p.Asn182Thr
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