Canonical Allele Identifier: CA507961261
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1490261388
gnomAD v2: 19-46269758-G-A
gnomAD v4: 19-45766500-G-A
MyVariant Identifiers: chr19:g.46269758G>A (hg19) chr19:g.45766500G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766500G>A , CM000681.2:g.45766500G>A GRCh38
NC_000019.9:g.46269758G>A , CM000681.1:g.46269758G>A GRCh37
NC_000019.8:g.50961598G>A NCBI36
NG_012745.1:g.7740C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1459C>T MANE Select ENSP00000316842.4:p.Leu487=
ENST00000317578.6:c.1459C>T ENSP00000316842.4:p.Leu487=
ENST00000560160.1:c.587-389C>T
ENST00000560168.1:c.*647C>T ENSP00000453189.2:n.*647C>T
ENST00000622857.1:c.16-538C>T ENSP00000481365.1:n.16-538C>T
NM_175875.4:c.1459C>T NP_787071.2:p.Leu487=
NM_175875.5:c.1459C>T MANE Select NP_787071.3:p.Leu487=
Search 100 bp 5'
Search 100 bp 3'