Canonical Allele Identifier: CA507833803

Gene: SIX5

Linked Data

• MyVariant Identifiers: chr19:g.46270233C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766975C>G , CM000681.2:g.45766975C>G	GRCh38
NC_000019.9:g.46270233C>G , CM000681.1:g.46270233C>G	GRCh37
NC_000019.8:g.50962073C>G	NCBI36
NG_012745.1:g.7265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.984G>C MANE Select	ENSP00000316842.4:p.Leu328=
ENST00000317578.6:c.984G>C	ENSP00000316842.4:p.Leu328=
ENST00000560160.1:c.587-864G>C
ENST00000560168.1:c.*172G>C	ENSP00000453189.2:n.*172G>C
ENST00000622857.1:c.16-1013G>C	ENSP00000481365.1:n.16-1013G>C
NM_175875.4:c.984G>C	NP_787071.2:p.Leu328=
NM_175875.5:c.984G>C MANE Select	NP_787071.3:p.Leu328=