Canonical Allele Identifier: CA376714593

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470495G>T , CM000672.2:g.49470495G>T	GRCh38
NC_000010.10:g.50678541G>T , CM000672.1:g.50678541G>T	GRCh37
NC_000010.9:g.50348547G>T	NCBI36
NG_009442.1:g.73607C>A , LRG_465:g.73607C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3465C>A MANE Select	NP_000115.1:p.Tyr1155Ter
ENST00000355832.10:c.3465C>A MANE Select	ENSP00000348089.5:p.Tyr1155Ter
NM_000124.3:c.3465C>A	NP_000115.1:p.Tyr1155Ter
NM_001346440.1:c.3465C>A	NP_001333369.1:p.Tyr1155Ter
NM_001346440.2:c.3465C>A	NP_001333369.1:p.Tyr1155Ter
ENST00000355832.9:c.3465C>A	ENSP00000348089.5:p.Tyr1155Ter
ENST00000623073.3:c.*1761C>A	ENSP00000485650.1:n.*1761C>A
ENST00000623115.3:c.1575C>A	ENSP00000485321.1:p.Tyr525Ter
ENST00000624341.3:c.1297C>A
ENST00000679552.1:n.536C>A
ENST00000679871.1:n.611C>A
ENST00000679974.1:n.514C>A
ENST00000681632.1:n.4868C>A
ENST00000681659.1:c.3306C>A	ENSP00000505631.1:p.Tyr1102Ter
XR_945953.1:n.243-1070G>T