Canonical Allele Identifier: CA2609135360

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460333-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460333C>A , CM000672.2:g.49460333C>A	GRCh38
NC_000010.10:g.50668379C>A , CM000672.1:g.50668379C>A	GRCh37
NC_000010.9:g.50338385C>A	NCBI36
NG_009442.1:g.83769G>T , LRG_465:g.83769G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+40G>T MANE Select	ENSP00000348089.5:n.4062+40G>T
ENST00000679552.1:n.1173G>T
ENST00000679871.1:n.1208+40G>T
ENST00000679974.1:n.1111+40G>T
ENST00000681632.1:n.5465+40G>T
ENST00000681659.1:c.3903+40G>T	ENSP00000505631.1:n.3903+40G>T
ENST00000355832.9:c.4062+40G>T	ENSP00000348089.5:n.4062+40G>T
ENST00000465653.1:n.424G>T
ENST00000623073.3:c.*2358+40G>T	ENSP00000485650.1:n.*2358+40G>T
ENST00000623115.3:c.2172+40G>T	ENSP00000485321.1:n.2172+40G>T
ENST00000624341.3:c.1894+40G>T
NM_000124.3:c.4062+40G>T	NP_000115.1:n.4062+40G>T
XR_945953.1:n.243-11232C>A
NM_001346440.1:c.4062+40G>T	NP_001333369.1:n.4062+40G>T
NM_000124.4:c.4062+40G>T MANE Select	NP_000115.1:n.4062+40G>T
NM_001346440.2:c.4062+40G>T	NP_001333369.1:n.4062+40G>T