Canonical Allele Identifier: CA376716353

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1346182
• ClinVar RCV Id: RCV002041362
• dbSNP Id: rs2132537563
• gnomAD v4: 10-49470746-T-C
• MyVariant Identifiers: chr10:g.50678792T>C (hg19) ; chr10:g.49470746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470746T>C , CM000672.2:g.49470746T>C	GRCh38
NC_000010.10:g.50678792T>C , CM000672.1:g.50678792T>C	GRCh37
NC_000010.9:g.50348798T>C	NCBI36
NG_009442.1:g.73356A>G , LRG_465:g.73356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3214A>G MANE Select	ENSP00000348089.5:p.Lys1072Glu
ENST00000679552.1:n.285A>G
ENST00000679871.1:n.360A>G
ENST00000679974.1:n.263A>G
ENST00000681632.1:n.4617A>G
ENST00000681659.1:c.3055A>G	ENSP00000505631.1:p.Lys1019Glu
ENST00000355832.9:c.3214A>G	ENSP00000348089.5:p.Lys1072Glu
ENST00000623073.3:c.*1510A>G	ENSP00000485650.1:n.*1510A>G
ENST00000623115.3:c.1324A>G	ENSP00000485321.1:p.Lys442Glu
ENST00000624341.3:c.1046A>G
NM_000124.3:c.3214A>G	NP_000115.1:p.Lys1072Glu
XR_945953.1:n.243-819T>C
NM_001346440.1:c.3214A>G	NP_001333369.1:p.Lys1072Glu
NM_000124.4:c.3214A>G MANE Select	NP_000115.1:p.Lys1072Glu
NM_001346440.2:c.3214A>G	NP_001333369.1:p.Lys1072Glu