Canonical Allele Identifier: CA1030070962
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs1666582086
gnomAD v3: 2-44942052-C-T
gnomAD v4: 2-44942052-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942052C>T , CM000664.2:g.44942052C>T GRCh38
NC_000002.11:g.45169191C>T , CM000664.1:g.45169191C>T GRCh37
NC_000002.10:g.45022695C>T NCBI36
NG_016222.1:g.5155C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.-53C>T MANE Select ENSP00000260653.3:n.-53C>T
ENST00000260653.4:c.-53C>T ENSP00000260653.3:n.-53C>T
NM_005413.3:c.-53C>T NP_005404.1:n.-53C>T
XM_011533042.1:c.-53C>T XP_011531344.1:n.-53C>T
NM_005413.4:c.-53C>T MANE Select NP_005404.1:n.-53C>T
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