Canonical Allele Identifier: CA1642237
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs201997244
ExAC: 2:45169261 C / T
gnomAD v2: 2-45169261-C-T
gnomAD v4: 2-44942122-C-T
MyVariant Identifiers: chr2:g.45169261C>T (hg19) chr2:g.44942122C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942122C>T , CM000664.2:g.44942122C>T GRCh38
NC_000002.11:g.45169261C>T , CM000664.1:g.45169261C>T GRCh37
NC_000002.10:g.45022765C>T NCBI36
NG_016222.1:g.5225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.18C>T MANE Select ENSP00000260653.3:p.Pro6=
ENST00000260653.4:c.18C>T ENSP00000260653.3:p.Pro6=
NM_005413.3:c.18C>T NP_005404.1:p.Pro6=
XM_011533042.1:c.18C>T XP_011531344.1:p.Pro6=
NM_005413.4:c.18C>T MANE Select NP_005404.1:p.Pro6=
Search 100 bp 5'
Search 100 bp 3'