Canonical Allele Identifier: CA406420727

Gene: SIX5

Linked Data

• MyVariant Identifiers: chr19:g.46270240C>A (hg19) ; chr19:g.45766982C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766982C>A , CM000681.2:g.45766982C>A	GRCh38
NC_000019.9:g.46270240C>A , CM000681.1:g.46270240C>A	GRCh37
NC_000019.8:g.50962080C>A	NCBI36
NG_012745.1:g.7258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.977G>T MANE Select	ENSP00000316842.4:p.Ser326Ile
ENST00000317578.6:c.977G>T	ENSP00000316842.4:p.Ser326Ile
ENST00000560160.1:c.587-871G>T
ENST00000560168.1:c.*165G>T	ENSP00000453189.2:n.*165G>T
ENST00000622857.1:c.16-1020G>T	ENSP00000481365.1:n.16-1020G>T
NM_175875.4:c.977G>T	NP_787071.2:p.Ser326Ile
NM_175875.5:c.977G>T MANE Select	NP_787071.3:p.Ser326Ile