Canonical Allele Identifier: CA593780556

Gene: ERCC6

Linked Data

• dbSNP Id: rs1361142850
• gnomAD v2: 10-50680637-A-T
• MyVariant Identifiers: chr10:g.50680637A>T (hg19) ; chr10:g.49472591A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472591A>T , CM000672.2:g.49472591A>T	GRCh38
NC_000010.10:g.50680637A>T , CM000672.1:g.50680637A>T	GRCh37
NC_000010.9:g.50350643A>T	NCBI36
NG_009442.1:g.71511T>A , LRG_465:g.71511T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2830-121T>A MANE Select	ENSP00000348089.5:n.2830-121T>A
ENST00000681632.1:n.4112T>A
ENST00000681659.1:c.2671-121T>A	ENSP00000505631.1:n.2671-121T>A
ENST00000355832.9:c.2830-121T>A	ENSP00000348089.5:n.2830-121T>A
ENST00000623073.3:c.*1126-121T>A	ENSP00000485650.1:n.*1126-121T>A
ENST00000623115.3:c.940-121T>A	ENSP00000485321.1:n.940-121T>A
ENST00000624341.3:c.662-121T>A
NM_000124.3:c.2830-121T>A	NP_000115.1:n.2830-121T>A
XR_945953.1:n.690-112A>T
NM_001346440.1:c.2830-121T>A	NP_001333369.1:n.2830-121T>A
NM_000124.4:c.2830-121T>A MANE Select	NP_000115.1:n.2830-121T>A
NM_001346440.2:c.2830-121T>A	NP_001333369.1:n.2830-121T>A