Canonical Allele Identifier: CA346798766
Gene: SIX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942149G>C , CM000664.2:g.44942149G>C GRCh38
NC_000002.11:g.45169288G>C , CM000664.1:g.45169288G>C GRCh37
NC_000002.10:g.45022792G>C NCBI36
NG_016222.1:g.5252G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.45G>C MANE Select ENSP00000260653.3:p.Leu15Phe
ENST00000260653.4:c.45G>C ENSP00000260653.3:p.Leu15Phe
NM_005413.3:c.45G>C NP_005404.1:p.Leu15Phe
XM_011533042.1:c.45G>C XP_011531344.1:p.Leu15Phe
NM_005413.4:c.45G>C MANE Select NP_005404.1:p.Leu15Phe