Canonical Allele Identifier: CA2609138454

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49482652-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482652A>G , CM000672.2:g.49482652A>G	GRCh38
NC_000010.10:g.50690698A>G , CM000672.1:g.50690698A>G	GRCh37
NC_000010.9:g.50360704A>G	NCBI36
NG_009442.1:g.61450T>C , LRG_465:g.61450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2169+35T>C MANE Select	ENSP00000348089.5:n.2169+35T>C
ENST00000681632.1:n.2247+35T>C
ENST00000681659.1:c.2010+35T>C	ENSP00000505631.1:n.2010+35T>C
ENST00000355832.9:c.2169+35T>C	ENSP00000348089.5:n.2169+35T>C
ENST00000623073.3:c.*561+35T>C	ENSP00000485650.1:n.*561+35T>C
ENST00000623115.3:c.279+35T>C	ENSP00000485321.1:n.279+35T>C
NM_000124.3:c.2169+35T>C	NP_000115.1:n.2169+35T>C
NM_001346440.1:c.2169+35T>C	NP_001333369.1:n.2169+35T>C
NM_000124.4:c.2169+35T>C MANE Select	NP_000115.1:n.2169+35T>C
NM_001346440.2:c.2169+35T>C	NP_001333369.1:n.2169+35T>C