Canonical Allele Identifier: CA1908744544
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49459253T= , CM000672.2:g.49459253T= GRCh38
NC_000010.10:g.50667299T= , CM000672.1:g.50667299T= GRCh37
NC_000010.9:g.50337305T= NCBI36
NG_009442.1:g.84849A= , LRG_465:g.84849A=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.4063-19A= MANE Select ENSP00000348089.5:n.4063-19A=
ENST00000679552.1:n.2253A=
ENST00000679871.1:n.1209-19A=
ENST00000679974.1:n.1112-19A=
ENST00000681632.1:n.5466-19A=
ENST00000681659.1:c.3904-19A= ENSP00000505631.1:n.3904-19A=
ENST00000355832.9:c.4063-19A= ENSP00000348089.5:n.4063-19A=
ENST00000623073.3:c.*2359-19A= ENSP00000485650.1:n.*2359-19A=
ENST00000623115.3:c.2173-19A= ENSP00000485321.1:n.2173-19A=
ENST00000624341.3:c.1895-19A=
NM_000124.3:c.4063-19A= NP_000115.1:n.4063-19A=
XR_945953.1:n.243-12312T=
NM_001346440.1:c.4063-19A= NP_001333369.1:n.4063-19A=
NM_000124.4:c.4063-19A= MANE Select NP_000115.1:n.4063-19A=
NM_001346440.2:c.4063-19A= NP_001333369.1:n.4063-19A=