Canonical Allele Identifier: CA1642263
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs777810054
ExAC: 2:45169356 C / T
gnomAD v2: 2-45169356-C-T
gnomAD v3: 2-44942217-C-T
gnomAD v4: 2-44942217-C-T
COSMIC: COSM4094356
MyVariant Identifiers: chr2:g.45169356C>T (hg19) chr2:g.44942217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942217C>T , CM000664.2:g.44942217C>T GRCh38
NC_000002.11:g.45169356C>T , CM000664.1:g.45169356C>T GRCh37
NC_000002.10:g.45022860C>T NCBI36
NG_016222.1:g.5320C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.113C>T MANE Select ENSP00000260653.3:p.Ala38Val
ENST00000260653.4:c.113C>T ENSP00000260653.3:p.Ala38Val
NM_005413.3:c.113C>T NP_005404.1:p.Ala38Val
XM_011533042.1:c.113C>T XP_011531344.1:p.Ala38Val
NM_005413.4:c.113C>T MANE Select NP_005404.1:p.Ala38Val
Search 100 bp 5'
Search 100 bp 3'