Canonical Allele Identifier: CA2609135187

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49472594-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472594T>A , CM000672.2:g.49472594T>A	GRCh38
NC_000010.10:g.50680640T>A , CM000672.1:g.50680640T>A	GRCh37
NC_000010.9:g.50350646T>A	NCBI36
NG_009442.1:g.71508A>T , LRG_465:g.71508A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2830-124A>T MANE Select	ENSP00000348089.5:n.2830-124A>T
ENST00000681632.1:n.4109A>T
ENST00000681659.1:c.2671-124A>T	ENSP00000505631.1:n.2671-124A>T
ENST00000355832.9:c.2830-124A>T	ENSP00000348089.5:n.2830-124A>T
ENST00000623073.3:c.*1126-124A>T	ENSP00000485650.1:n.*1126-124A>T
ENST00000623115.3:c.940-124A>T	ENSP00000485321.1:n.940-124A>T
ENST00000624341.3:c.662-124A>T
NM_000124.3:c.2830-124A>T	NP_000115.1:n.2830-124A>T
XR_945953.1:n.690-109T>A
NM_001346440.1:c.2830-124A>T	NP_001333369.1:n.2830-124A>T
NM_000124.4:c.2830-124A>T MANE Select	NP_000115.1:n.2830-124A>T
NM_001346440.2:c.2830-124A>T	NP_001333369.1:n.2830-124A>T