Canonical Allele Identifier: CA2609134490

Gene: ERCC6

Linked Data

• dbSNP Id: rs2132538244
• gnomAD v4: 10-49471197-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471197G>A , CM000672.2:g.49471197G>A	GRCh38
NC_000010.10:g.50679243G>A , CM000672.1:g.50679243G>A	GRCh37
NC_000010.9:g.50349249G>A	NCBI36
NG_009442.1:g.72905C>T , LRG_465:g.72905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-77C>T MANE Select	ENSP00000348089.5:n.2925-77C>T
ENST00000679552.1:n.142-308C>T
ENST00000679871.1:n.71-77C>T
ENST00000679974.1:n.120-308C>T
ENST00000681632.1:n.4328-77C>T
ENST00000681659.1:c.2766-77C>T	ENSP00000505631.1:n.2766-77C>T
ENST00000355832.9:c.2925-77C>T	ENSP00000348089.5:n.2925-77C>T
ENST00000623073.3:c.*1221-77C>T	ENSP00000485650.1:n.*1221-77C>T
ENST00000623115.3:c.1035-77C>T	ENSP00000485321.1:n.1035-77C>T
ENST00000624341.3:c.757-77C>T
NM_000124.3:c.2925-77C>T	NP_000115.1:n.2925-77C>T
XR_945953.1:n.243-368G>A
NM_001346440.1:c.2925-77C>T	NP_001333369.1:n.2925-77C>T
NM_000124.4:c.2925-77C>T MANE Select	NP_000115.1:n.2925-77C>T
NM_001346440.2:c.2925-77C>T	NP_001333369.1:n.2925-77C>T