Canonical Allele Identifier: CA376717840

Gene: ERCC6

Linked Data

• dbSNP Id: rs1335539393
• gnomAD v4: 10-49471094-T-A
• MyVariant Identifiers: chr10:g.50679140T>A (hg19) ; chr10:g.49471094T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471094T>A , CM000672.2:g.49471094T>A	GRCh38
NC_000010.10:g.50679140T>A , CM000672.1:g.50679140T>A	GRCh37
NC_000010.9:g.50349146T>A	NCBI36
NG_009442.1:g.73008A>T , LRG_465:g.73008A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2951A>T MANE Select	ENSP00000348089.5:p.Asn984Ile
ENST00000679552.1:n.142-205A>T
ENST00000679871.1:n.97A>T
ENST00000679974.1:n.120-205A>T
ENST00000681632.1:n.4354A>T
ENST00000681659.1:c.2792A>T	ENSP00000505631.1:p.Asn931Ile
ENST00000355832.9:c.2951A>T	ENSP00000348089.5:p.Asn984Ile
ENST00000623073.3:c.*1247A>T	ENSP00000485650.1:n.*1247A>T
ENST00000623115.3:c.1061A>T	ENSP00000485321.1:p.Asn354Ile
ENST00000624341.3:c.783A>T
NM_000124.3:c.2951A>T	NP_000115.1:p.Asn984Ile
XR_945953.1:n.243-471T>A
NM_001346440.1:c.2951A>T	NP_001333369.1:p.Asn984Ile
NM_000124.4:c.2951A>T MANE Select	NP_000115.1:p.Asn984Ile
NM_001346440.2:c.2951A>T	NP_001333369.1:p.Asn984Ile