Canonical Allele Identifier: CA309001004

Gene: SIX5

Linked Data

• dbSNP Id: rs372410961
• gnomAD v4: 19-45767019-G-A
• MyVariant Identifiers: chr19:g.46270277G>A (hg19) ; chr19:g.45767019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767019G>A , CM000681.2:g.45767019G>A	GRCh38
NC_000019.9:g.46270277G>A , CM000681.1:g.46270277G>A	GRCh37
NC_000019.8:g.50962117G>A	NCBI36
NG_012745.1:g.7221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.940C>T MANE Select	ENSP00000316842.4:p.Pro314Ser
ENST00000317578.6:c.940C>T	ENSP00000316842.4:p.Pro314Ser
ENST00000560160.1:c.587-908C>T
ENST00000560168.1:c.*128C>T	ENSP00000453189.2:n.*128C>T
ENST00000622857.1:c.16-1057C>T	ENSP00000481365.1:n.16-1057C>T
NM_175875.4:c.940C>T	NP_787071.2:p.Pro314Ser
NM_175875.5:c.940C>T MANE Select	NP_787071.3:p.Pro314Ser