Canonical Allele Identifier: CA406418832

Gene: SIX5

Linked Data

• dbSNP Id: rs2146206830
• gnomAD v4: 19-45766710-G-A
• MyVariant Identifiers: chr19:g.46269968G>A (hg19) ; chr19:g.45766710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766710G>A , CM000681.2:g.45766710G>A	GRCh38
NC_000019.9:g.46269968G>A , CM000681.1:g.46269968G>A	GRCh37
NC_000019.8:g.50961808G>A	NCBI36
NG_012745.1:g.7530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1249C>T MANE Select	ENSP00000316842.4:p.Leu417Phe
ENST00000317578.6:c.1249C>T	ENSP00000316842.4:p.Leu417Phe
ENST00000560160.1:c.587-599C>T
ENST00000560168.1:c.*437C>T	ENSP00000453189.2:n.*437C>T
ENST00000622857.1:c.16-748C>T	ENSP00000481365.1:n.16-748C>T
NM_175875.4:c.1249C>T	NP_787071.2:p.Leu417Phe
NM_175875.5:c.1249C>T MANE Select	NP_787071.3:p.Leu417Phe