Canonical Allele Identifier: CA346798713
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942124-T-C
MyVariant Identifiers: chr2:g.45169263T>C (hg19) chr2:g.44942124T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942124T>C , CM000664.2:g.44942124T>C GRCh38
NC_000002.11:g.45169263T>C , CM000664.1:g.45169263T>C GRCh37
NC_000002.10:g.45022767T>C NCBI36
NG_016222.1:g.5227T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.20T>C MANE Select ENSP00000260653.3:p.Leu7Pro
ENST00000260653.4:c.20T>C ENSP00000260653.3:p.Leu7Pro
NM_005413.3:c.20T>C NP_005404.1:p.Leu7Pro
XM_011533042.1:c.20T>C XP_011531344.1:p.Leu7Pro
NM_005413.4:c.20T>C MANE Select NP_005404.1:p.Leu7Pro
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