Canonical Allele Identifier: CA346799023
Gene: SIX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942279G>T , CM000664.2:g.44942279G>T GRCh38
NC_000002.11:g.45169418G>T , CM000664.1:g.45169418G>T GRCh37
NC_000002.10:g.45022922G>T NCBI36
NG_016222.1:g.5382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.175G>T MANE Select ENSP00000260653.3:p.Ala59Ser
ENST00000260653.4:c.175G>T ENSP00000260653.3:p.Ala59Ser
NM_005413.3:c.175G>T NP_005404.1:p.Ala59Ser
XM_011533042.1:c.175G>T XP_011531344.1:p.Ala59Ser
NM_005413.4:c.175G>T MANE Select NP_005404.1:p.Ala59Ser