Canonical Allele Identifier: CA2338594624

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767046A= , CM000681.2:g.45767046A=	GRCh38
NC_000019.9:g.46270304A= , CM000681.1:g.46270304A=	GRCh37
NC_000019.8:g.50962144A=	NCBI36
NG_012745.1:g.7194T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.913T= MANE Select	ENSP00000316842.4:p.Phe305=
ENST00000317578.6:c.913T=	ENSP00000316842.4:p.Phe305=
ENST00000560160.1:c.587-935T=
ENST00000560168.1:c.*101T=	ENSP00000453189.2:n.*101T=
ENST00000622857.1:c.16-1084T=	ENSP00000481365.1:n.16-1084T=
NM_175875.4:c.913T=	NP_787071.2:p.Phe305=
NM_175875.5:c.913T= MANE Select	NP_787071.3:p.Phe305=