Canonical Allele Identifier: CA376713342

Gene: ERCC6

Linked Data

• COSMIC: COSM4621852
• MyVariant Identifiers: chr10:g.50678391C>A (hg19) ; chr10:g.49470345C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470345C>A , CM000672.2:g.49470345C>A	GRCh38
NC_000010.10:g.50678391C>A , CM000672.1:g.50678391C>A	GRCh37
NC_000010.9:g.50348397C>A	NCBI36
NG_009442.1:g.73757G>T , LRG_465:g.73757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3615G>T MANE Select	ENSP00000348089.5:p.Lys1205Asn
ENST00000679552.1:n.686G>T
ENST00000679871.1:n.761G>T
ENST00000679974.1:n.664G>T
ENST00000681632.1:n.5018G>T
ENST00000681659.1:c.3456G>T	ENSP00000505631.1:p.Lys1152Asn
ENST00000355832.9:c.3615G>T	ENSP00000348089.5:p.Lys1205Asn
ENST00000623073.3:c.*1911G>T	ENSP00000485650.1:n.*1911G>T
ENST00000623115.3:c.1725G>T	ENSP00000485321.1:p.Lys575Asn
ENST00000624341.3:c.1447G>T
NM_000124.3:c.3615G>T	NP_000115.1:p.Lys1205Asn
XR_945953.1:n.243-1220C>A
NM_001346440.1:c.3615G>T	NP_001333369.1:p.Lys1205Asn
NM_000124.4:c.3615G>T MANE Select	NP_000115.1:p.Lys1205Asn
NM_001346440.2:c.3615G>T	NP_001333369.1:p.Lys1205Asn