Canonical Allele Identifier: CA2609136407

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49500699-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500699A>T , CM000672.2:g.49500699A>T	GRCh38
NC_000010.10:g.50708745A>T , CM000672.1:g.50708745A>T	GRCh37
NC_000010.9:g.50378751A>T	NCBI36
NG_009442.1:g.43403T>A , LRG_465:g.43403T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1527-3T>A MANE Select	ENSP00000348089.5:n.1527-3T>A
ENST00000681632.1:n.1605-3T>A
ENST00000681659.1:c.1526+5185T>A	ENSP00000505631.1:n.1526+5185T>A
ENST00000355832.9:c.1527-3T>A	ENSP00000348089.5:n.1527-3T>A
ENST00000475116.1:n.117-3T>A
ENST00000623073.3:c.-76T>A	ENSP00000485650.1:n.-76T>A
ENST00000623115.3:c.-228-3T>A	ENSP00000485321.1:n.-228-3T>A
ENST00000623318.1:c.-73-3T>A	ENSP00000485423.1:n.-73-3T>A
ENST00000623788.1:n.526-3T>A
NM_000124.3:c.1527-3T>A	NP_000115.1:n.1527-3T>A
NM_001346440.1:c.1527-3T>A	NP_001333369.1:n.1527-3T>A
NM_000124.4:c.1527-3T>A MANE Select	NP_000115.1:n.1527-3T>A
NM_001346440.2:c.1527-3T>A	NP_001333369.1:n.1527-3T>A