Canonical Allele Identifier: CA2609135412

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460364-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460364C>A , CM000672.2:g.49460364C>A	GRCh38
NC_000010.10:g.50668410C>A , CM000672.1:g.50668410C>A	GRCh37
NC_000010.9:g.50338416C>A	NCBI36
NG_009442.1:g.83738G>T , LRG_465:g.83738G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+9G>T MANE Select	ENSP00000348089.5:n.4062+9G>T
ENST00000679552.1:n.1142G>T
ENST00000679871.1:n.1208+9G>T
ENST00000679974.1:n.1111+9G>T
ENST00000681632.1:n.5465+9G>T
ENST00000681659.1:c.3903+9G>T	ENSP00000505631.1:n.3903+9G>T
ENST00000355832.9:c.4062+9G>T	ENSP00000348089.5:n.4062+9G>T
ENST00000465653.1:n.393G>T
ENST00000623073.3:c.*2358+9G>T	ENSP00000485650.1:n.*2358+9G>T
ENST00000623115.3:c.2172+9G>T	ENSP00000485321.1:n.2172+9G>T
ENST00000624341.3:c.1894+9G>T
NM_000124.3:c.4062+9G>T	NP_000115.1:n.4062+9G>T
XR_945953.1:n.243-11201C>A
NM_001346440.1:c.4062+9G>T	NP_001333369.1:n.4062+9G>T
NM_000124.4:c.4062+9G>T MANE Select	NP_000115.1:n.4062+9G>T
NM_001346440.2:c.4062+9G>T	NP_001333369.1:n.4062+9G>T