Canonical Allele Identifier: CA376717703

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49471064-C-A
• MyVariant Identifiers: chr10:g.50679110C>A (hg19) ; chr10:g.49471064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471064C>A , CM000672.2:g.49471064C>A	GRCh38
NC_000010.10:g.50679110C>A , CM000672.1:g.50679110C>A	GRCh37
NC_000010.9:g.50349116C>A	NCBI36
NG_009442.1:g.73038G>T , LRG_465:g.73038G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2981G>T MANE Select	ENSP00000348089.5:p.Arg994Leu
ENST00000679552.1:n.142-175G>T
ENST00000679871.1:n.127G>T
ENST00000679974.1:n.120-175G>T
ENST00000681632.1:n.4384G>T
ENST00000681659.1:c.2822G>T	ENSP00000505631.1:p.Arg941Leu
ENST00000355832.9:c.2981G>T	ENSP00000348089.5:p.Arg994Leu
ENST00000623073.3:c.*1277G>T	ENSP00000485650.1:n.*1277G>T
ENST00000623115.3:c.1091G>T	ENSP00000485321.1:p.Arg364Leu
ENST00000624341.3:c.813G>T
NM_000124.3:c.2981G>T	NP_000115.1:p.Arg994Leu
XR_945953.1:n.243-501C>A
NM_001346440.1:c.2981G>T	NP_001333369.1:p.Arg994Leu
NM_000124.4:c.2981G>T MANE Select	NP_000115.1:p.Arg994Leu
NM_001346440.2:c.2981G>T	NP_001333369.1:p.Arg994Leu