Canonical Allele Identifier: CA406417660

Gene: SIX5

Linked Data

• dbSNP Id: rs1969076015
• gnomAD v4: 19-45766451-C-G
• MyVariant Identifiers: chr19:g.46269709C>G (hg19) ; chr19:g.45766451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766451C>G , CM000681.2:g.45766451C>G	GRCh38
NC_000019.9:g.46269709C>G , CM000681.1:g.46269709C>G	GRCh37
NC_000019.8:g.50961549C>G	NCBI36
NG_012745.1:g.7789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1508G>C MANE Select	ENSP00000316842.4:p.Ser503Thr
ENST00000317578.6:c.1508G>C	ENSP00000316842.4:p.Ser503Thr
ENST00000560160.1:c.587-340G>C
ENST00000560168.1:c.*696G>C	ENSP00000453189.2:n.*696G>C
ENST00000622857.1:c.16-489G>C	ENSP00000481365.1:n.16-489G>C
NM_175875.4:c.1508G>C	NP_787071.2:p.Ser503Thr
NM_175875.5:c.1508G>C MANE Select	NP_787071.3:p.Ser503Thr