Canonical Allele Identifier: CA376717853

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679143G>T (hg19) ; chr10:g.49471097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471097G>T , CM000672.2:g.49471097G>T	GRCh38
NC_000010.10:g.50679143G>T , CM000672.1:g.50679143G>T	GRCh37
NC_000010.9:g.50349149G>T	NCBI36
NG_009442.1:g.73005C>A , LRG_465:g.73005C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2948C>A MANE Select	ENSP00000348089.5:p.Thr983Lys
ENST00000679552.1:n.142-208C>A
ENST00000679871.1:n.94C>A
ENST00000679974.1:n.120-208C>A
ENST00000681632.1:n.4351C>A
ENST00000681659.1:c.2789C>A	ENSP00000505631.1:p.Thr930Lys
ENST00000355832.9:c.2948C>A	ENSP00000348089.5:p.Thr983Lys
ENST00000623073.3:c.*1244C>A	ENSP00000485650.1:n.*1244C>A
ENST00000623115.3:c.1058C>A	ENSP00000485321.1:p.Thr353Lys
ENST00000624341.3:c.780C>A
NM_000124.3:c.2948C>A	NP_000115.1:p.Thr983Lys
XR_945953.1:n.243-468G>T
NM_001346440.1:c.2948C>A	NP_001333369.1:p.Thr983Lys
NM_000124.4:c.2948C>A MANE Select	NP_000115.1:p.Thr983Lys
NM_001346440.2:c.2948C>A	NP_001333369.1:p.Thr983Lys