Canonical Allele Identifier: CA376715865

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678709A>T (hg19) ; chr10:g.49470663A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470663A>T , CM000672.2:g.49470663A>T	GRCh38
NC_000010.10:g.50678709A>T , CM000672.1:g.50678709A>T	GRCh37
NC_000010.9:g.50348715A>T	NCBI36
NG_009442.1:g.73439T>A , LRG_465:g.73439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3297T>A MANE Select	ENSP00000348089.5:p.Ser1099Arg
ENST00000679552.1:n.368T>A
ENST00000679871.1:n.443T>A
ENST00000679974.1:n.346T>A
ENST00000681632.1:n.4700T>A
ENST00000681659.1:c.3138T>A	ENSP00000505631.1:p.Ser1046Arg
ENST00000355832.9:c.3297T>A	ENSP00000348089.5:p.Ser1099Arg
ENST00000623073.3:c.*1593T>A	ENSP00000485650.1:n.*1593T>A
ENST00000623115.3:c.1407T>A	ENSP00000485321.1:p.Ser469Arg
ENST00000624341.3:c.1129T>A
NM_000124.3:c.3297T>A	NP_000115.1:p.Ser1099Arg
XR_945953.1:n.243-902A>T
NM_001346440.1:c.3297T>A	NP_001333369.1:p.Ser1099Arg
NM_000124.4:c.3297T>A MANE Select	NP_000115.1:p.Ser1099Arg
NM_001346440.2:c.3297T>A	NP_001333369.1:p.Ser1099Arg