Canonical Allele Identifier: CA376721355

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474082A>T , CM000672.2:g.49474082A>T	GRCh38
NC_000010.10:g.50682128A>T , CM000672.1:g.50682128A>T	GRCh37
NC_000010.9:g.50352134A>T	NCBI36
NG_009442.1:g.70020T>A , LRG_465:g.70020T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2543T>A MANE Select	NP_000115.1:p.Leu848Ter
ENST00000355832.10:c.2543T>A MANE Select	ENSP00000348089.5:p.Leu848Ter
NM_000124.3:c.2543T>A	NP_000115.1:p.Leu848Ter
NM_001346440.1:c.2543T>A	NP_001333369.1:p.Leu848Ter
NM_001346440.2:c.2543T>A	NP_001333369.1:p.Leu848Ter
ENST00000355832.9:c.2543T>A	ENSP00000348089.5:p.Leu848Ter
ENST00000623073.3:c.*839T>A	ENSP00000485650.1:n.*839T>A
ENST00000623115.3:c.653T>A	ENSP00000485321.1:p.Leu218Ter
ENST00000624341.3:c.375T>A
ENST00000681632.1:n.2621T>A
ENST00000681659.1:c.2384T>A	ENSP00000505631.1:p.Leu795Ter