Canonical Allele Identifier: CA406420780

Gene: SIX5

Linked Data

• dbSNP Id: rs1234961689
• gnomAD v2: 19-46270250-C-T
• MyVariant Identifiers: chr19:g.46270250C>T (hg19) ; chr19:g.45766992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766992C>T , CM000681.2:g.45766992C>T	GRCh38
NC_000019.9:g.46270250C>T , CM000681.1:g.46270250C>T	GRCh37
NC_000019.8:g.50962090C>T	NCBI36
NG_012745.1:g.7248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.967G>A MANE Select	ENSP00000316842.4:p.Val323Met
ENST00000317578.6:c.967G>A	ENSP00000316842.4:p.Val323Met
ENST00000560160.1:c.587-881G>A
ENST00000560168.1:c.*155G>A	ENSP00000453189.2:n.*155G>A
ENST00000622857.1:c.16-1030G>A	ENSP00000481365.1:n.16-1030G>A
NM_175875.4:c.967G>A	NP_787071.2:p.Val323Met
NM_175875.5:c.967G>A MANE Select	NP_787071.3:p.Val323Met