Canonical Allele Identifier: CA376717597

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679089A>T (hg19) ; chr10:g.49471043A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471043A>T , CM000672.2:g.49471043A>T	GRCh38
NC_000010.10:g.50679089A>T , CM000672.1:g.50679089A>T	GRCh37
NC_000010.9:g.50349095A>T	NCBI36
NG_009442.1:g.73059T>A , LRG_465:g.73059T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3002T>A MANE Select	ENSP00000348089.5:p.Leu1001His
ENST00000679552.1:n.142-154T>A
ENST00000679871.1:n.148T>A
ENST00000679974.1:n.120-154T>A
ENST00000681632.1:n.4405T>A
ENST00000681659.1:c.2843T>A	ENSP00000505631.1:p.Leu948His
ENST00000355832.9:c.3002T>A	ENSP00000348089.5:p.Leu1001His
ENST00000623073.3:c.*1298T>A	ENSP00000485650.1:n.*1298T>A
ENST00000623115.3:c.1112T>A	ENSP00000485321.1:p.Leu371His
ENST00000624341.3:c.834T>A
NM_000124.3:c.3002T>A	NP_000115.1:p.Leu1001His
XR_945953.1:n.243-522A>T
NM_001346440.1:c.3002T>A	NP_001333369.1:p.Leu1001His
NM_000124.4:c.3002T>A MANE Select	NP_000115.1:p.Leu1001His
NM_001346440.2:c.3002T>A	NP_001333369.1:p.Leu1001His