Canonical Allele Identifier: CA928208543

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850998834
• gnomAD v3: 10-49482612-G-C
• gnomAD v4: 10-49482612-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482612G>C , CM000672.2:g.49482612G>C	GRCh38
NC_000010.10:g.50690658G>C , CM000672.1:g.50690658G>C	GRCh37
NC_000010.9:g.50360664G>C	NCBI36
NG_009442.1:g.61490C>G , LRG_465:g.61490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2169+75C>G MANE Select	ENSP00000348089.5:n.2169+75C>G
ENST00000681632.1:n.2247+75C>G
ENST00000681659.1:c.2010+75C>G	ENSP00000505631.1:n.2010+75C>G
ENST00000355832.9:c.2169+75C>G	ENSP00000348089.5:n.2169+75C>G
ENST00000623073.3:c.*561+75C>G	ENSP00000485650.1:n.*561+75C>G
ENST00000623115.3:c.279+75C>G	ENSP00000485321.1:n.279+75C>G
NM_000124.3:c.2169+75C>G	NP_000115.1:n.2169+75C>G
NM_001346440.1:c.2169+75C>G	NP_001333369.1:n.2169+75C>G
NM_000124.4:c.2169+75C>G MANE Select	NP_000115.1:n.2169+75C>G
NM_001346440.2:c.2169+75C>G	NP_001333369.1:n.2169+75C>G