Canonical Allele Identifier: CA206584096

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 742892
• ClinVar RCV Id: RCV000919200
• dbSNP Id: rs986569705
• gnomAD v2: 10-50678313-G-A
• gnomAD v4: 10-49470267-G-A
• MyVariant Identifiers: chr10:g.50678313G>A (hg19) ; chr10:g.49470267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470267G>A , CM000672.2:g.49470267G>A	GRCh38
NC_000010.10:g.50678313G>A , CM000672.1:g.50678313G>A	GRCh37
NC_000010.9:g.50348319G>A	NCBI36
NG_009442.1:g.73835C>T , LRG_465:g.73835C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3693C>T MANE Select	ENSP00000348089.5:p.Tyr1231=
ENST00000679552.1:n.764C>T
ENST00000679871.1:n.839C>T
ENST00000679974.1:n.742C>T
ENST00000681632.1:n.5096C>T
ENST00000681659.1:c.3534C>T	ENSP00000505631.1:p.Tyr1178=
ENST00000355832.9:c.3693C>T	ENSP00000348089.5:p.Tyr1231=
ENST00000465653.1:n.15C>T
ENST00000623073.3:c.*1989C>T	ENSP00000485650.1:n.*1989C>T
ENST00000623115.3:c.1803C>T	ENSP00000485321.1:p.Tyr601=
ENST00000624341.3:c.1525C>T
NM_000124.3:c.3693C>T	NP_000115.1:p.Tyr1231=
XR_945953.1:n.243-1298G>A
NM_001346440.1:c.3693C>T	NP_001333369.1:p.Tyr1231=
NM_000124.4:c.3693C>T MANE Select	NP_000115.1:p.Tyr1231=
NM_001346440.2:c.3693C>T	NP_001333369.1:p.Tyr1231=