Canonical Allele Identifier: CA376708222

Gene: ERCC6

Linked Data

• COSMIC: COSM6427284
• MyVariant Identifiers: chr10:g.50669410G>T (hg19) ; chr10:g.49461364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461364G>T , CM000672.2:g.49461364G>T	GRCh38
NC_000010.10:g.50669410G>T , CM000672.1:g.50669410G>T	GRCh37
NC_000010.9:g.50339416G>T	NCBI36
NG_009442.1:g.82738C>A , LRG_465:g.82738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3971C>A MANE Select	ENSP00000348089.5:p.Pro1324Gln
ENST00000679552.1:n.1042C>A
ENST00000679871.1:n.1117C>A
ENST00000679974.1:n.1020C>A
ENST00000681632.1:n.5374C>A
ENST00000681659.1:c.3812C>A	ENSP00000505631.1:p.Pro1271Gln
ENST00000355832.9:c.3971C>A	ENSP00000348089.5:p.Pro1324Gln
ENST00000465653.1:n.293C>A
ENST00000623073.3:c.*2267C>A	ENSP00000485650.1:n.*2267C>A
ENST00000623115.3:c.2081C>A	ENSP00000485321.1:p.Pro694Gln
ENST00000624341.3:c.1803C>A
NM_000124.3:c.3971C>A	NP_000115.1:p.Pro1324Gln
XR_945953.1:n.243-10201G>T
NM_001346440.1:c.3971C>A	NP_001333369.1:p.Pro1324Gln
NM_000124.4:c.3971C>A MANE Select	NP_000115.1:p.Pro1324Gln
NM_001346440.2:c.3971C>A	NP_001333369.1:p.Pro1324Gln