Canonical Allele Identifier: CA376717812

Gene: ERCC6

Linked Data

• dbSNP Id: rs1192424921
• gnomAD v2: 10-50679134-A-G
• gnomAD v3: 10-49471088-A-G
• gnomAD v4: 10-49471088-A-G
• MyVariant Identifiers: chr10:g.50679134A>G (hg19) ; chr10:g.49471088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471088A>G , CM000672.2:g.49471088A>G	GRCh38
NC_000010.10:g.50679134A>G , CM000672.1:g.50679134A>G	GRCh37
NC_000010.9:g.50349140A>G	NCBI36
NG_009442.1:g.73014T>C , LRG_465:g.73014T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2957T>C MANE Select	ENSP00000348089.5:p.Val986Ala
ENST00000679552.1:n.142-199T>C
ENST00000679871.1:n.103T>C
ENST00000679974.1:n.120-199T>C
ENST00000681632.1:n.4360T>C
ENST00000681659.1:c.2798T>C	ENSP00000505631.1:p.Val933Ala
ENST00000355832.9:c.2957T>C	ENSP00000348089.5:p.Val986Ala
ENST00000623073.3:c.*1253T>C	ENSP00000485650.1:n.*1253T>C
ENST00000623115.3:c.1067T>C	ENSP00000485321.1:p.Val356Ala
ENST00000624341.3:c.789T>C
NM_000124.3:c.2957T>C	NP_000115.1:p.Val986Ala
XR_945953.1:n.243-477A>G
NM_001346440.1:c.2957T>C	NP_001333369.1:p.Val986Ala
NM_000124.4:c.2957T>C MANE Select	NP_000115.1:p.Val986Ala
NM_001346440.2:c.2957T>C	NP_001333369.1:p.Val986Ala