Canonical Allele Identifier: CA2574544777

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460336G>T , CM000672.2:g.49460336G>T	GRCh38
NC_000010.10:g.50668382G>T , CM000672.1:g.50668382G>T	GRCh37
NC_000010.9:g.50338388G>T	NCBI36
NG_009442.1:g.83766C>A , LRG_465:g.83766C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+37C>A MANE Select	ENSP00000348089.5:n.4062+37C>A
ENST00000679552.1:n.1170C>A
ENST00000679871.1:n.1208+37C>A
ENST00000679974.1:n.1111+37C>A
ENST00000681632.1:n.5465+37C>A
ENST00000681659.1:c.3903+37C>A	ENSP00000505631.1:n.3903+37C>A
ENST00000355832.9:c.4062+37C>A	ENSP00000348089.5:n.4062+37C>A
ENST00000465653.1:n.421C>A
ENST00000623073.3:c.*2358+37C>A	ENSP00000485650.1:n.*2358+37C>A
ENST00000623115.3:c.2172+37C>A	ENSP00000485321.1:n.2172+37C>A
ENST00000624341.3:c.1894+37C>A
NM_000124.3:c.4062+37C>A	NP_000115.1:n.4062+37C>A
XR_945953.1:n.243-11229G>T
NM_001346440.1:c.4062+37C>A	NP_001333369.1:n.4062+37C>A
NM_000124.4:c.4062+37C>A MANE Select	NP_000115.1:n.4062+37C>A
NM_001346440.2:c.4062+37C>A	NP_001333369.1:n.4062+37C>A