Canonical Allele Identifier: CA5495286

Gene: ERCC6

Linked Data

• dbSNP Id: rs775424153
• ExAC: 10:50678277 C / G
• gnomAD v2: 10-50678277-C-G
• MyVariant Identifiers: chr10:g.50678277C>G (hg19) ; chr10:g.49470231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470231C>G , CM000672.2:g.49470231C>G	GRCh38
NC_000010.10:g.50678277C>G , CM000672.1:g.50678277C>G	GRCh37
NC_000010.9:g.50348283C>G	NCBI36
NG_009442.1:g.73871G>C , LRG_465:g.73871G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3729G>C MANE Select	ENSP00000348089.5:p.Lys1243Asn
ENST00000679552.1:n.800G>C
ENST00000679871.1:n.875G>C
ENST00000679974.1:n.778G>C
ENST00000681632.1:n.5132G>C
ENST00000681659.1:c.3570G>C	ENSP00000505631.1:p.Lys1190Asn
ENST00000355832.9:c.3729G>C	ENSP00000348089.5:p.Lys1243Asn
ENST00000465653.1:n.51G>C
ENST00000623073.3:c.*2025G>C	ENSP00000485650.1:n.*2025G>C
ENST00000623115.3:c.1839G>C	ENSP00000485321.1:p.Lys613Asn
ENST00000624341.3:c.1561G>C
NM_000124.3:c.3729G>C	NP_000115.1:p.Lys1243Asn
XR_945953.1:n.243-1334C>G
NM_001346440.1:c.3729G>C	NP_001333369.1:p.Lys1243Asn
NM_000124.4:c.3729G>C MANE Select	NP_000115.1:p.Lys1243Asn
NM_001346440.2:c.3729G>C	NP_001333369.1:p.Lys1243Asn