Canonical Allele Identifier: CA5495285

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1128009
• ClinVar RCV Id: RCV001460630
• dbSNP Id: rs780209673
• ExAC: 10:50678262 G / A
• gnomAD v2: 10-50678262-G-A
• gnomAD v3: 10-49470216-G-A
• gnomAD v4: 10-49470216-G-A
• MyVariant Identifiers: chr10:g.50678262G>A (hg19) ; chr10:g.49470216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470216G>A , CM000672.2:g.49470216G>A	GRCh38
NC_000010.10:g.50678262G>A , CM000672.1:g.50678262G>A	GRCh37
NC_000010.9:g.50348268G>A	NCBI36
NG_009442.1:g.73886C>T , LRG_465:g.73886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3744C>T MANE Select	ENSP00000348089.5:p.Asp1248=
ENST00000679552.1:n.815C>T
ENST00000679871.1:n.890C>T
ENST00000679974.1:n.793C>T
ENST00000681632.1:n.5147C>T
ENST00000681659.1:c.3585C>T	ENSP00000505631.1:p.Asp1195=
ENST00000355832.9:c.3744C>T	ENSP00000348089.5:p.Asp1248=
ENST00000465653.1:n.66C>T
ENST00000623073.3:c.*2040C>T	ENSP00000485650.1:n.*2040C>T
ENST00000623115.3:c.1854C>T	ENSP00000485321.1:p.Asp618=
ENST00000624341.3:c.1576C>T
NM_000124.3:c.3744C>T	NP_000115.1:p.Asp1248=
XR_945953.1:n.243-1349G>A
NM_001346440.1:c.3744C>T	NP_001333369.1:p.Asp1248=
NM_000124.4:c.3744C>T MANE Select	NP_000115.1:p.Asp1248=
NM_001346440.2:c.3744C>T	NP_001333369.1:p.Asp1248=