Canonical Allele Identifier: CA10635400

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49457035A>G , CM000672.2:g.49457035A>G	GRCh38
NC_000010.10:g.50665081A>G , CM000672.1:g.50665081A>G	GRCh37
NC_000010.9:g.50335087A>G	NCBI36
NG_009442.1:g.87067T>C , LRG_465:g.87067T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.*1780T>C MANE Select	NP_000115.1:n.*1780T>C
ENST00000355832.10:c.*1780T>C MANE Select	ENSP00000348089.5:n.*1780T>C
NM_000124.3:c.*1780T>C	NP_000115.1:n.*1780T>C
NM_001346440.1:c.*1780T>C	NP_001333369.1:n.*1780T>C
NM_001346440.2:c.*1780T>C	NP_001333369.1:n.*1780T>C
ENST00000355832.9:c.*1780T>C	ENSP00000348089.5:n.*1780T>C
ENST00000623073.3:c.*4558T>C	ENSP00000485650.1:n.*4558T>C
ENST00000624341.3:c.4094T>C
ENST00000679552.1:n.4471T>C
ENST00000679871.1:n.3408T>C
ENST00000679974.1:n.3311T>C
ENST00000681632.1:n.7665T>C
ENST00000681659.1:c.*1780T>C	ENSP00000505631.1:n.*1780T>C
XR_945953.1:n.243-14530A>G