Canonical Allele Identifier: CA376717789

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679128T>A (hg19) ; chr10:g.49471082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471082T>A , CM000672.2:g.49471082T>A	GRCh38
NC_000010.10:g.50679128T>A , CM000672.1:g.50679128T>A	GRCh37
NC_000010.9:g.50349134T>A	NCBI36
NG_009442.1:g.73020A>T , LRG_465:g.73020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2963A>T MANE Select	ENSP00000348089.5:p.Lys988Ile
ENST00000679552.1:n.142-193A>T
ENST00000679871.1:n.109A>T
ENST00000679974.1:n.120-193A>T
ENST00000681632.1:n.4366A>T
ENST00000681659.1:c.2804A>T	ENSP00000505631.1:p.Lys935Ile
ENST00000355832.9:c.2963A>T	ENSP00000348089.5:p.Lys988Ile
ENST00000623073.3:c.*1259A>T	ENSP00000485650.1:n.*1259A>T
ENST00000623115.3:c.1073A>T	ENSP00000485321.1:p.Lys358Ile
ENST00000624341.3:c.795A>T
NM_000124.3:c.2963A>T	NP_000115.1:p.Lys988Ile
XR_945953.1:n.243-483T>A
NM_001346440.1:c.2963A>T	NP_001333369.1:p.Lys988Ile
NM_000124.4:c.2963A>T MANE Select	NP_000115.1:p.Lys988Ile
NM_001346440.2:c.2963A>T	NP_001333369.1:p.Lys988Ile