Canonical Allele Identifier: CA5495443

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1944071
• ClinVar RCV Id: RCV002663095
• dbSNP Id: rs759542213
• ExAC: 10:50679046 G / T
• gnomAD v2: 10-50679046-G-T
• gnomAD v3: 10-49471000-G-T
• gnomAD v4: 10-49471000-G-T
• MyVariant Identifiers: chr10:g.50679046G>T (hg19) ; chr10:g.49471000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471000G>T , CM000672.2:g.49471000G>T	GRCh38
NC_000010.10:g.50679046G>T , CM000672.1:g.50679046G>T	GRCh37
NC_000010.9:g.50349052G>T	NCBI36
NG_009442.1:g.73102C>A , LRG_465:g.73102C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3045C>A MANE Select	ENSP00000348089.5:p.Ser1015Arg
ENST00000679552.1:n.142-111C>A
ENST00000679871.1:n.191C>A
ENST00000679974.1:n.120-111C>A
ENST00000681632.1:n.4448C>A
ENST00000681659.1:c.2886C>A	ENSP00000505631.1:p.Ser962Arg
ENST00000355832.9:c.3045C>A	ENSP00000348089.5:p.Ser1015Arg
ENST00000623073.3:c.*1341C>A	ENSP00000485650.1:n.*1341C>A
ENST00000623115.3:c.1155C>A	ENSP00000485321.1:p.Ser385Arg
ENST00000624341.3:c.877C>A
NM_000124.3:c.3045C>A	NP_000115.1:p.Ser1015Arg
XR_945953.1:n.243-565G>T
NM_001346440.1:c.3045C>A	NP_001333369.1:p.Ser1015Arg
NM_000124.4:c.3045C>A MANE Select	NP_000115.1:p.Ser1015Arg
NM_001346440.2:c.3045C>A	NP_001333369.1:p.Ser1015Arg