Canonical Allele Identifier: CA10635404
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300031
ClinVar RCV Id: RCV000308390 RCV000344657 RCV000393263 RCV001718606
dbSNP Id: rs4253231
gnomAD v2: 10-50666808-A-G
gnomAD v3: 10-49458762-A-G
gnomAD v4: 10-49458762-A-G
MyVariant Identifiers: chr10:g.50666808A>G (hg19) chr10:g.49458762A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49458762A>G , CM000672.2:g.49458762A>G GRCh38
NC_000010.10:g.50666808A>G , CM000672.1:g.50666808A>G GRCh37
NC_000010.9:g.50336814A>G NCBI36
NG_009442.1:g.85340T>C , LRG_465:g.85340T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.*53T>C MANE Select ENSP00000348089.5:n.*53T>C
ENST00000679552.1:n.2744T>C
ENST00000679871.1:n.1681T>C
ENST00000679974.1:n.1584T>C
ENST00000681632.1:n.5938T>C
ENST00000681659.1:c.*53T>C ENSP00000505631.1:n.*53T>C
ENST00000355832.9:c.*53T>C ENSP00000348089.5:n.*53T>C
ENST00000623073.3:c.*2831T>C ENSP00000485650.1:n.*2831T>C
ENST00000624341.3:c.2367T>C
NM_000124.3:c.*53T>C NP_000115.1:n.*53T>C
XR_945953.1:n.243-12803A>G
NM_001346440.1:c.*53T>C NP_001333369.1:n.*53T>C
NM_000124.4:c.*53T>C MANE Select NP_000115.1:n.*53T>C
NM_001346440.2:c.*53T>C NP_001333369.1:n.*53T>C
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