Canonical Allele Identifier: CA9520718
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 748766
ClinVar RCV Id: RCV000925585 RCV002488004
dbSNP Id: rs374751577
ExAC: 19:46270281 G / A
gnomAD v2: 19-46270281-G-A
gnomAD v3: 19-45767023-G-A
gnomAD v4: 19-45767023-G-A
MyVariant Identifiers: chr19:g.46270281G>A (hg19) chr19:g.45767023G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767023G>A , CM000681.2:g.45767023G>A GRCh38
NC_000019.9:g.46270281G>A , CM000681.1:g.46270281G>A GRCh37
NC_000019.8:g.50962121G>A NCBI36
NG_012745.1:g.7217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.936C>T MANE Select ENSP00000316842.4:p.Pro312=
ENST00000317578.6:c.936C>T ENSP00000316842.4:p.Pro312=
ENST00000560160.1:c.587-912C>T
ENST00000560168.1:c.*124C>T ENSP00000453189.2:n.*124C>T
ENST00000622857.1:c.16-1061C>T ENSP00000481365.1:n.16-1061C>T
NM_175875.4:c.936C>T NP_787071.2:p.Pro312=
NM_175875.5:c.936C>T MANE Select NP_787071.3:p.Pro312=
Search 100 bp 5'
Search 100 bp 3'