Canonical Allele Identifier: CA5495380

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470701G>A , CM000672.2:g.49470701G>A	GRCh38
NC_000010.10:g.50678747G>A , CM000672.1:g.50678747G>A	GRCh37
NC_000010.9:g.50348753G>A	NCBI36
NG_009442.1:g.73401C>T , LRG_465:g.73401C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3259C>T MANE Select	NP_000115.1:p.Arg1087Ter
ENST00000355832.10:c.3259C>T MANE Select	ENSP00000348089.5:p.Arg1087Ter
NM_000124.3:c.3259C>T	NP_000115.1:p.Arg1087Ter
NM_001346440.1:c.3259C>T	NP_001333369.1:p.Arg1087Ter
NM_001346440.2:c.3259C>T	NP_001333369.1:p.Arg1087Ter
ENST00000355832.9:c.3259C>T	ENSP00000348089.5:p.Arg1087Ter
ENST00000623073.3:c.*1555C>T	ENSP00000485650.1:n.*1555C>T
ENST00000623115.3:c.1369C>T	ENSP00000485321.1:p.Arg457Ter
ENST00000624341.3:c.1091C>T
ENST00000679552.1:n.330C>T
ENST00000679871.1:n.405C>T
ENST00000679974.1:n.308C>T
ENST00000681632.1:n.4662C>T
ENST00000681659.1:c.3100C>T	ENSP00000505631.1:p.Arg1034Ter
XR_945953.1:n.243-864G>A