Canonical Allele Identifier: CA376708155

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460440-C-T
• COSMIC: COSM4989965
• MyVariant Identifiers: chr10:g.50668486C>T (hg19) ; chr10:g.49460440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460440C>T , CM000672.2:g.49460440C>T	GRCh38
NC_000010.10:g.50668486C>T , CM000672.1:g.50668486C>T	GRCh37
NC_000010.9:g.50338492C>T	NCBI36
NG_009442.1:g.83662G>A , LRG_465:g.83662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3995G>A MANE Select	ENSP00000348089.5:p.Gly1332Asp
ENST00000679552.1:n.1066G>A
ENST00000679871.1:n.1141G>A
ENST00000679974.1:n.1044G>A
ENST00000681632.1:n.5398G>A
ENST00000681659.1:c.3836G>A	ENSP00000505631.1:p.Gly1279Asp
ENST00000355832.9:c.3995G>A	ENSP00000348089.5:p.Gly1332Asp
ENST00000465653.1:n.317G>A
ENST00000623073.3:c.*2291G>A	ENSP00000485650.1:n.*2291G>A
ENST00000623115.3:c.2105G>A	ENSP00000485321.1:p.Gly702Asp
ENST00000624341.3:c.1827G>A
NM_000124.3:c.3995G>A	NP_000115.1:p.Gly1332Asp
XR_945953.1:n.243-11125C>T
NM_001346440.1:c.3995G>A	NP_001333369.1:p.Gly1332Asp
NM_000124.4:c.3995G>A MANE Select	NP_000115.1:p.Gly1332Asp
NM_001346440.2:c.3995G>A	NP_001333369.1:p.Gly1332Asp