Canonical Allele Identifier: CA16618958
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 422107
ClinVar RCV Id: RCV000483921
dbSNP Id: rs1064795562
MyVariant Identifiers: chr10:g.50708623A>G (hg19) chr10:g.49500577A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49500577A>G , CM000672.2:g.49500577A>G GRCh38
NC_000010.10:g.50708623A>G , CM000672.1:g.50708623A>G GRCh37
NC_000010.9:g.50378629A>G NCBI36
NG_009442.1:g.43525T>C , LRG_465:g.43525T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1646T>C MANE Select ENSP00000348089.5:p.Leu549Pro
ENST00000681632.1:n.1724T>C
ENST00000681659.1:c.1526+5307T>C ENSP00000505631.1:n.1526+5307T>C
ENST00000355832.9:c.1646T>C ENSP00000348089.5:p.Leu549Pro
ENST00000475116.1:n.236T>C
ENST00000623073.3:c.47T>C ENSP00000485650.1:p.Leu16Pro
ENST00000623115.3:c.-109T>C ENSP00000485321.1:n.-109T>C
ENST00000623318.1:c.47T>C ENSP00000485423.1:p.Leu16Pro
NM_000124.3:c.1646T>C NP_000115.1:p.Leu549Pro
NM_001346440.1:c.1646T>C NP_001333369.1:p.Leu549Pro
NM_000124.4:c.1646T>C MANE Select NP_000115.1:p.Leu549Pro
NM_001346440.2:c.1646T>C NP_001333369.1:p.Leu549Pro
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