Canonical Allele Identifier: CA376708270

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461389-C-A
• MyVariant Identifiers: chr10:g.50669435C>A (hg19) ; chr10:g.49461389C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461389C>A , CM000672.2:g.49461389C>A	GRCh38
NC_000010.10:g.50669435C>A , CM000672.1:g.50669435C>A	GRCh37
NC_000010.9:g.50339441C>A	NCBI36
NG_009442.1:g.82713G>T , LRG_465:g.82713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3946G>T MANE Select	ENSP00000348089.5:p.Gly1316Cys
ENST00000679552.1:n.1017G>T
ENST00000679871.1:n.1092G>T
ENST00000679974.1:n.995G>T
ENST00000681632.1:n.5349G>T
ENST00000681659.1:c.3787G>T	ENSP00000505631.1:p.Gly1263Cys
ENST00000355832.9:c.3946G>T	ENSP00000348089.5:p.Gly1316Cys
ENST00000465653.1:n.268G>T
ENST00000623073.3:c.*2242G>T	ENSP00000485650.1:n.*2242G>T
ENST00000623115.3:c.2056G>T	ENSP00000485321.1:p.Gly686Cys
ENST00000624341.3:c.1778G>T
NM_000124.3:c.3946G>T	NP_000115.1:p.Gly1316Cys
XR_945953.1:n.243-10176C>A
NM_001346440.1:c.3946G>T	NP_001333369.1:p.Gly1316Cys
NM_000124.4:c.3946G>T MANE Select	NP_000115.1:p.Gly1316Cys
NM_001346440.2:c.3946G>T	NP_001333369.1:p.Gly1316Cys