Canonical Allele Identifier: CA5495487

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1932260
• ClinVar RCV Id: RCV002622473
• dbSNP Id: rs552099159
• ExAC: 10:50680431 A / G
• gnomAD v2: 10-50680431-A-G
• gnomAD v3: 10-49472385-A-G
• gnomAD v4: 10-49472385-A-G
• MyVariant Identifiers: chr10:g.50680431A>G (hg19) ; chr10:g.49472385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472385A>G , CM000672.2:g.49472385A>G	GRCh38
NC_000010.10:g.50680431A>G , CM000672.1:g.50680431A>G	GRCh37
NC_000010.9:g.50350437A>G	NCBI36
NG_009442.1:g.71717T>C , LRG_465:g.71717T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2915T>C MANE Select	ENSP00000348089.5:p.Ile972Thr
ENST00000681632.1:n.4318T>C
ENST00000681659.1:c.2756T>C	ENSP00000505631.1:p.Ile919Thr
ENST00000355832.9:c.2915T>C	ENSP00000348089.5:p.Ile972Thr
ENST00000623073.3:c.*1211T>C	ENSP00000485650.1:n.*1211T>C
ENST00000623115.3:c.1025T>C	ENSP00000485321.1:p.Ile342Thr
ENST00000624341.3:c.747T>C
NM_000124.3:c.2915T>C	NP_000115.1:p.Ile972Thr
XR_945953.1:n.690-318A>G
NM_001346440.1:c.2915T>C	NP_001333369.1:p.Ile972Thr
NM_000124.4:c.2915T>C MANE Select	NP_000115.1:p.Ile972Thr
NM_001346440.2:c.2915T>C	NP_001333369.1:p.Ile972Thr