Canonical Allele Identifier: CA486814170
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.60976638C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509920C>T , CM000676.2:g.60509920C>T GRCh38
NC_000014.8:g.60976638C>T , CM000676.1:g.60976638C>T GRCh37
NC_000014.7:g.60046391C>T NCBI36
NG_008203.1:g.5701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.522C>T (SIX6) MANE Select ENSP00000328596.5:p.Asn174=
ENST00000327720.5:c.522C>T (SIX6) ENSP00000328596.5:p.Asn174=
ENST00000556799.1:c.-144+5475G>A (C14orf39) ENSP00000451441.1:n.-144+5475G>A
NM_007374.2:c.522C>T (SIX6) NP_031400.2:p.Asn174=
NM_007374.3:c.522C>T (SIX6) MANE Select NP_031400.2:p.Asn174=