Canonical Allele Identifier: CA1908744532
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49459232A= , CM000672.2:g.49459232A= GRCh38
NC_000010.10:g.50667278A= , CM000672.1:g.50667278A= GRCh37
NC_000010.9:g.50337284A= NCBI36
NG_009442.1:g.84870T= , LRG_465:g.84870T=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.4065T= MANE Select ENSP00000348089.5:p.Asp1355=
ENST00000679552.1:n.2274T=
ENST00000679871.1:n.1211T=
ENST00000679974.1:n.1114T=
ENST00000681632.1:n.5468T=
ENST00000681659.1:c.3906T= ENSP00000505631.1:p.Asp1302=
ENST00000355832.9:c.4065T= ENSP00000348089.5:p.Asp1355=
ENST00000623073.3:c.*2361T= ENSP00000485650.1:n.*2361T=
ENST00000623115.3:c.2175T= ENSP00000485321.1:p.Asp725=
ENST00000624341.3:c.1897T=
NM_000124.3:c.4065T= NP_000115.1:p.Asp1355=
XR_945953.1:n.243-12333A=
NM_001346440.1:c.4065T= NP_001333369.1:p.Asp1355=
NM_000124.4:c.4065T= MANE Select NP_000115.1:p.Asp1355=
NM_001346440.2:c.4065T= NP_001333369.1:p.Asp1355=