Canonical Allele Identifier: CA507962004
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1379257209
gnomAD v2: 19-46270173-C-T
gnomAD v3: 19-45766915-C-T
gnomAD v4: 19-45766915-C-T
MyVariant Identifiers: chr19:g.46270173C>T (hg19) chr19:g.45766915C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766915C>T , CM000681.2:g.45766915C>T GRCh38
NC_000019.9:g.46270173C>T , CM000681.1:g.46270173C>T GRCh37
NC_000019.8:g.50962013C>T NCBI36
NG_012745.1:g.7325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1044G>A MANE Select ENSP00000316842.4:p.Leu348=
ENST00000317578.6:c.1044G>A ENSP00000316842.4:p.Leu348=
ENST00000560160.1:c.587-804G>A
ENST00000560168.1:c.*232G>A ENSP00000453189.2:n.*232G>A
ENST00000622857.1:c.16-953G>A ENSP00000481365.1:n.16-953G>A
NM_175875.4:c.1044G>A NP_787071.2:p.Leu348=
NM_175875.5:c.1044G>A MANE Select NP_787071.3:p.Leu348=
Search 100 bp 5'
Search 100 bp 3'