Canonical Allele Identifier: CA376714843

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678568G>T (hg19) ; chr10:g.49470522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470522G>T , CM000672.2:g.49470522G>T	GRCh38
NC_000010.10:g.50678568G>T , CM000672.1:g.50678568G>T	GRCh37
NC_000010.9:g.50348574G>T	NCBI36
NG_009442.1:g.73580C>A , LRG_465:g.73580C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3438C>A MANE Select	ENSP00000348089.5:p.Ser1146Arg
ENST00000679552.1:n.509C>A
ENST00000679871.1:n.584C>A
ENST00000679974.1:n.487C>A
ENST00000681632.1:n.4841C>A
ENST00000681659.1:c.3279C>A	ENSP00000505631.1:p.Ser1093Arg
ENST00000355832.9:c.3438C>A	ENSP00000348089.5:p.Ser1146Arg
ENST00000623073.3:c.*1734C>A	ENSP00000485650.1:n.*1734C>A
ENST00000623115.3:c.1548C>A	ENSP00000485321.1:p.Ser516Arg
ENST00000624341.3:c.1270C>A
NM_000124.3:c.3438C>A	NP_000115.1:p.Ser1146Arg
XR_945953.1:n.243-1043G>T
NM_001346440.1:c.3438C>A	NP_001333369.1:p.Ser1146Arg
NM_000124.4:c.3438C>A MANE Select	NP_000115.1:p.Ser1146Arg
NM_001346440.2:c.3438C>A	NP_001333369.1:p.Ser1146Arg