Canonical Allele Identifier: CA9520712
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs769943258
ExAC: 19:46270268 C / G
gnomAD v2: 19-46270268-C-G
gnomAD v3: 19-45767010-C-G
gnomAD v4: 19-45767010-C-G
MyVariant Identifiers: chr19:g.46270268C>G (hg19) chr19:g.45767010C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767010C>G , CM000681.2:g.45767010C>G GRCh38
NC_000019.9:g.46270268C>G , CM000681.1:g.46270268C>G GRCh37
NC_000019.8:g.50962108C>G NCBI36
NG_012745.1:g.7230G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.949G>C MANE Select ENSP00000316842.4:p.Ala317Pro
ENST00000317578.6:c.949G>C ENSP00000316842.4:p.Ala317Pro
ENST00000560160.1:c.587-899G>C
ENST00000560168.1:c.*137G>C ENSP00000453189.2:n.*137G>C
ENST00000622857.1:c.16-1048G>C ENSP00000481365.1:n.16-1048G>C
NM_175875.4:c.949G>C NP_787071.2:p.Ala317Pro
NM_175875.5:c.949G>C MANE Select NP_787071.3:p.Ala317Pro
Search 100 bp 5'
Search 100 bp 3'