Canonical Allele Identifier: CA5495448

Gene: ERCC6

Linked Data

• dbSNP Id: rs756951136
• ExAC: 10:50679063 G / A
• MyVariant Identifiers: chr10:g.50679063G>A (hg19) ; chr10:g.49471017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471017G>A , CM000672.2:g.49471017G>A	GRCh38
NC_000010.10:g.50679063G>A , CM000672.1:g.50679063G>A	GRCh37
NC_000010.9:g.50349069G>A	NCBI36
NG_009442.1:g.73085C>T , LRG_465:g.73085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3028C>T MANE Select	ENSP00000348089.5:p.Pro1010Ser
ENST00000679552.1:n.142-128C>T
ENST00000679871.1:n.174C>T
ENST00000679974.1:n.120-128C>T
ENST00000681632.1:n.4431C>T
ENST00000681659.1:c.2869C>T	ENSP00000505631.1:p.Pro957Ser
ENST00000355832.9:c.3028C>T	ENSP00000348089.5:p.Pro1010Ser
ENST00000623073.3:c.*1324C>T	ENSP00000485650.1:n.*1324C>T
ENST00000623115.3:c.1138C>T	ENSP00000485321.1:p.Pro380Ser
ENST00000624341.3:c.860C>T
NM_000124.3:c.3028C>T	NP_000115.1:p.Pro1010Ser
XR_945953.1:n.243-548G>A
NM_001346440.1:c.3028C>T	NP_001333369.1:p.Pro1010Ser
NM_000124.4:c.3028C>T MANE Select	NP_000115.1:p.Pro1010Ser
NM_001346440.2:c.3028C>T	NP_001333369.1:p.Pro1010Ser