Canonical Allele Identifier: CA376717197

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470884-C-T
• MyVariant Identifiers: chr10:g.50678930C>T (hg19) ; chr10:g.49470884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470884C>T , CM000672.2:g.49470884C>T	GRCh38
NC_000010.10:g.50678930C>T , CM000672.1:g.50678930C>T	GRCh37
NC_000010.9:g.50348936C>T	NCBI36
NG_009442.1:g.73218G>A , LRG_465:g.73218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3076G>A MANE Select	ENSP00000348089.5:p.Gly1026Arg
ENST00000679552.1:n.147G>A
ENST00000679871.1:n.222G>A
ENST00000679974.1:n.125G>A
ENST00000681632.1:n.4479G>A
ENST00000681659.1:c.2917G>A	ENSP00000505631.1:p.Gly973Arg
ENST00000355832.9:c.3076G>A	ENSP00000348089.5:p.Gly1026Arg
ENST00000623073.3:c.*1372G>A	ENSP00000485650.1:n.*1372G>A
ENST00000623115.3:c.1186G>A	ENSP00000485321.1:p.Gly396Arg
ENST00000624341.3:c.908G>A
NM_000124.3:c.3076G>A	NP_000115.1:p.Gly1026Arg
XR_945953.1:n.243-681C>T
NM_001346440.1:c.3076G>A	NP_001333369.1:p.Gly1026Arg
NM_000124.4:c.3076G>A MANE Select	NP_000115.1:p.Gly1026Arg
NM_001346440.2:c.3076G>A	NP_001333369.1:p.Gly1026Arg