Canonical Allele Identifier: CA5495250

Gene: ERCC6

Linked Data

• dbSNP Id: rs752642347
• ExAC: 10:50669525 C / T
• gnomAD v2: 10-50669525-C-T
• MyVariant Identifiers: chr10:g.50669525C>T (hg19) ; chr10:g.49461479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461479C>T , CM000672.2:g.49461479C>T	GRCh38
NC_000010.10:g.50669525C>T , CM000672.1:g.50669525C>T	GRCh37
NC_000010.9:g.50339531C>T	NCBI36
NG_009442.1:g.82623G>A , LRG_465:g.82623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3856G>A MANE Select	ENSP00000348089.5:p.Ala1286Thr
ENST00000679552.1:n.927G>A
ENST00000679871.1:n.1002G>A
ENST00000679974.1:n.905G>A
ENST00000681632.1:n.5259G>A
ENST00000681659.1:c.3697G>A	ENSP00000505631.1:p.Ala1233Thr
ENST00000355832.9:c.3856G>A	ENSP00000348089.5:p.Ala1286Thr
ENST00000465653.1:n.178G>A
ENST00000623073.3:c.*2152G>A	ENSP00000485650.1:n.*2152G>A
ENST00000623115.3:c.1966G>A	ENSP00000485321.1:p.Ala656Thr
ENST00000624341.3:c.1688G>A
NM_000124.3:c.3856G>A	NP_000115.1:p.Ala1286Thr
XR_945953.1:n.243-10086C>T
NM_001346440.1:c.3856G>A	NP_001333369.1:p.Ala1286Thr
NM_000124.4:c.3856G>A MANE Select	NP_000115.1:p.Ala1286Thr
NM_001346440.2:c.3856G>A	NP_001333369.1:p.Ala1286Thr