Canonical Allele Identifier: CA376716538

Gene: ERCC6

Linked Data

• dbSNP Id: rs1329171700
• gnomAD v2: 10-50678825-T-A
• gnomAD v3: 10-49470779-T-A
• gnomAD v4: 10-49470779-T-A
• MyVariant Identifiers: chr10:g.50678825T>A (hg19) ; chr10:g.49470779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470779T>A , CM000672.2:g.49470779T>A	GRCh38
NC_000010.10:g.50678825T>A , CM000672.1:g.50678825T>A	GRCh37
NC_000010.9:g.50348831T>A	NCBI36
NG_009442.1:g.73323A>T , LRG_465:g.73323A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3181A>T MANE Select	ENSP00000348089.5:p.Ile1061Leu
ENST00000679552.1:n.252A>T
ENST00000679871.1:n.327A>T
ENST00000679974.1:n.230A>T
ENST00000681632.1:n.4584A>T
ENST00000681659.1:c.3022A>T	ENSP00000505631.1:p.Ile1008Leu
ENST00000355832.9:c.3181A>T	ENSP00000348089.5:p.Ile1061Leu
ENST00000623073.3:c.*1477A>T	ENSP00000485650.1:n.*1477A>T
ENST00000623115.3:c.1291A>T	ENSP00000485321.1:p.Ile431Leu
ENST00000624341.3:c.1013A>T
NM_000124.3:c.3181A>T	NP_000115.1:p.Ile1061Leu
XR_945953.1:n.243-786T>A
NM_001346440.1:c.3181A>T	NP_001333369.1:p.Ile1061Leu
NM_000124.4:c.3181A>T MANE Select	NP_000115.1:p.Ile1061Leu
NM_001346440.2:c.3181A>T	NP_001333369.1:p.Ile1061Leu