Canonical Allele Identifier: CA5495506

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2992265
• ClinVar RCV Id: RCV003855392
• dbSNP Id: rs774558508
• ExAC: 10:50680533 G / C
• gnomAD v2: 10-50680533-G-C
• gnomAD v3: 10-49472487-G-C
• gnomAD v4: 10-49472487-G-C
• MyVariant Identifiers: chr10:g.50680533G>C (hg19) ; chr10:g.49472487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472487G>C , CM000672.2:g.49472487G>C	GRCh38
NC_000010.10:g.50680533G>C , CM000672.1:g.50680533G>C	GRCh37
NC_000010.9:g.50350539G>C	NCBI36
NG_009442.1:g.71615C>G , LRG_465:g.71615C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-17C>G MANE Select	ENSP00000348089.5:n.2830-17C>G
ENST00000681632.1:n.4216C>G
ENST00000681659.1:c.2671-17C>G	ENSP00000505631.1:n.2671-17C>G
ENST00000355832.9:c.2830-17C>G	ENSP00000348089.5:n.2830-17C>G
ENST00000623073.3:c.*1126-17C>G	ENSP00000485650.1:n.*1126-17C>G
ENST00000623115.3:c.940-17C>G	ENSP00000485321.1:n.940-17C>G
ENST00000624341.3:c.662-17C>G
NM_000124.3:c.2830-17C>G	NP_000115.1:n.2830-17C>G
XR_945953.1:n.690-216G>C
NM_001346440.1:c.2830-17C>G	NP_001333369.1:n.2830-17C>G
NM_000124.4:c.2830-17C>G MANE Select	NP_000115.1:n.2830-17C>G
NM_001346440.2:c.2830-17C>G	NP_001333369.1:n.2830-17C>G