Canonical Allele Identifier: CA9520715
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs561325897
ExAC: 19:46270270 G / A
gnomAD v2: 19-46270270-G-A
gnomAD v3: 19-45767012-G-A
gnomAD v4: 19-45767012-G-A
MyVariant Identifiers: chr19:g.46270270G>A (hg19) chr19:g.45767012G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767012G>A , CM000681.2:g.45767012G>A GRCh38
NC_000019.9:g.46270270G>A , CM000681.1:g.46270270G>A GRCh37
NC_000019.8:g.50962110G>A NCBI36
NG_012745.1:g.7228C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.947C>T MANE Select ENSP00000316842.4:p.Pro316Leu
ENST00000317578.6:c.947C>T ENSP00000316842.4:p.Pro316Leu
ENST00000560160.1:c.587-901C>T
ENST00000560168.1:c.*135C>T ENSP00000453189.2:n.*135C>T
ENST00000622857.1:c.16-1050C>T ENSP00000481365.1:n.16-1050C>T
NM_175875.4:c.947C>T NP_787071.2:p.Pro316Leu
NM_175875.5:c.947C>T MANE Select NP_787071.3:p.Pro316Leu
Search 100 bp 5'
Search 100 bp 3'