Canonical Allele Identifier: CA507960990

Gene: SIX5

Linked Data

• dbSNP Id: rs906251002
• gnomAD v3: 19-45766402-G-T
• gnomAD v4: 19-45766402-G-T
• MyVariant Identifiers: chr19:g.46269660G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766402G>T , CM000681.2:g.45766402G>T	GRCh38
NC_000019.9:g.46269660G>T , CM000681.1:g.46269660G>T	GRCh37
NC_000019.8:g.50961500G>T	NCBI36
NG_012745.1:g.7838C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1557C>A MANE Select	ENSP00000316842.4:p.Ile519=
ENST00000317578.6:c.1557C>A	ENSP00000316842.4:p.Ile519=
ENST00000560160.1:c.587-291C>A
ENST00000560168.1:c.*745C>A	ENSP00000453189.2:n.*745C>A
ENST00000622857.1:c.16-440C>A	ENSP00000481365.1:n.16-440C>A
NM_175875.4:c.1557C>A	NP_787071.2:p.Ile519=
NM_175875.5:c.1557C>A MANE Select	NP_787071.3:p.Ile519=