Canonical Allele Identifier: CA376714048

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678475A>C (hg19) ; chr10:g.49470429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470429A>C , CM000672.2:g.49470429A>C	GRCh38
NC_000010.10:g.50678475A>C , CM000672.1:g.50678475A>C	GRCh37
NC_000010.9:g.50348481A>C	NCBI36
NG_009442.1:g.73673T>G , LRG_465:g.73673T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3531T>G MANE Select	ENSP00000348089.5:p.Asn1177Lys
ENST00000679552.1:n.602T>G
ENST00000679871.1:n.677T>G
ENST00000679974.1:n.580T>G
ENST00000681632.1:n.4934T>G
ENST00000681659.1:c.3372T>G	ENSP00000505631.1:p.Asn1124Lys
ENST00000355832.9:c.3531T>G	ENSP00000348089.5:p.Asn1177Lys
ENST00000623073.3:c.*1827T>G	ENSP00000485650.1:n.*1827T>G
ENST00000623115.3:c.1641T>G	ENSP00000485321.1:p.Asn547Lys
ENST00000624341.3:c.1363T>G
NM_000124.3:c.3531T>G	NP_000115.1:p.Asn1177Lys
XR_945953.1:n.243-1136A>C
NM_001346440.1:c.3531T>G	NP_001333369.1:p.Asn1177Lys
NM_000124.4:c.3531T>G MANE Select	NP_000115.1:p.Asn1177Lys
NM_001346440.2:c.3531T>G	NP_001333369.1:p.Asn1177Lys