Canonical Allele Identifier: CA2338594235
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766399G= , CM000681.2:g.45766399G= GRCh38
NC_000019.9:g.46269657G= , CM000681.1:g.46269657G= GRCh37
NC_000019.8:g.50961497G= NCBI36
NG_012745.1:g.7841C=

Transcript Alleles

HGVS Amino-acid change
ENST00000317578.7:c.1560C= MANE Select ENSP00000316842.4:p.Asn520=
ENST00000317578.6:c.1560C= ENSP00000316842.4:p.Asn520=
ENST00000560160.1:c.587-288C=
ENST00000560168.1:c.*748C= ENSP00000453189.2:n.*748C=
ENST00000622857.1:c.16-437C= ENSP00000481365.1:n.16-437C=
NM_175875.4:c.1560C= NP_787071.2:p.Asn520=
NM_175875.5:c.1560C= MANE Select NP_787071.3:p.Asn520=