Canonical Allele Identifier: CA666052201

Gene: ERCC6

Linked Data

• dbSNP Id: rs1408762216
• gnomAD v3: 10-49514798-A-C
• gnomAD v4: 10-49514798-A-C
• MyVariant Identifiers: chr10:g.50722844A>C (hg19) ; chr10:g.49514798A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514798A>C , CM000672.2:g.49514798A>C	GRCh38
NC_000010.10:g.50722844A>C , CM000672.1:g.50722844A>C	GRCh37
NC_000010.9:g.50392850A>C	NCBI36
NG_009442.1:g.29304T>G , LRG_465:g.29304T>G
NG_033155.1:g.14484T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8786T>G MANE Select	ENSP00000348089.5:n.1398-8786T>G
ENST00000679811.1:n.1481-8786T>G
ENST00000680107.1:c.*2301T>G	ENSP00000505909.1:n.*2301T>G
ENST00000681632.1:n.1476-8786T>G
ENST00000681659.1:c.1398-8786T>G	ENSP00000505631.1:n.1398-8786T>G
ENST00000355832.9:c.1398-8786T>G	ENSP00000348089.5:n.1398-8786T>G
NM_000124.3:c.1398-8786T>G	NP_000115.1:n.1398-8786T>G
NM_001346440.1:c.1398-8786T>G	NP_001333369.1:n.1398-8786T>G
NM_000124.4:c.1398-8786T>G MANE Select	NP_000115.1:n.1398-8786T>G
NM_001346440.2:c.1398-8786T>G	NP_001333369.1:n.1398-8786T>G