Canonical Allele Identifier: CA376712248

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470181C>G , CM000672.2:g.49470181C>G	GRCh38
NC_000010.10:g.50678227C>G , CM000672.1:g.50678227C>G	GRCh37
NC_000010.9:g.50348233C>G	NCBI36
NG_009442.1:g.73921G>C , LRG_465:g.73921G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3778+1G>C MANE Select	NP_000115.1:n.3778+1G>C
ENST00000355832.10:c.3778+1G>C MANE Select	ENSP00000348089.5:n.3778+1G>C
NM_000124.3:c.3778+1G>C	NP_000115.1:n.3778+1G>C
NM_001346440.1:c.3778+1G>C	NP_001333369.1:n.3778+1G>C
NM_001346440.2:c.3778+1G>C	NP_001333369.1:n.3778+1G>C
ENST00000355832.9:c.3778+1G>C	ENSP00000348089.5:n.3778+1G>C
ENST00000465653.1:n.100+1G>C
ENST00000623073.3:c.*2074+1G>C	ENSP00000485650.1:n.*2074+1G>C
ENST00000623115.3:c.1888+1G>C	ENSP00000485321.1:n.1888+1G>C
ENST00000624341.3:c.1610+1G>C
ENST00000679552.1:n.849+1G>C
ENST00000679871.1:n.924+1G>C
ENST00000679974.1:n.827+1G>C
ENST00000681632.1:n.5181+1G>C
ENST00000681659.1:c.3619+1G>C	ENSP00000505631.1:n.3619+1G>C
XR_945953.1:n.243-1384C>G