Canonical Allele Identifier: CA376717913

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679161A>G (hg19) ; chr10:g.49471115A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471115A>G , CM000672.2:g.49471115A>G	GRCh38
NC_000010.10:g.50679161A>G , CM000672.1:g.50679161A>G	GRCh37
NC_000010.9:g.50349167A>G	NCBI36
NG_009442.1:g.72987T>C , LRG_465:g.72987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2930T>C MANE Select	ENSP00000348089.5:p.Ile977Thr
ENST00000679552.1:n.142-226T>C
ENST00000679871.1:n.76T>C
ENST00000679974.1:n.120-226T>C
ENST00000681632.1:n.4333T>C
ENST00000681659.1:c.2771T>C	ENSP00000505631.1:p.Ile924Thr
ENST00000355832.9:c.2930T>C	ENSP00000348089.5:p.Ile977Thr
ENST00000623073.3:c.*1226T>C	ENSP00000485650.1:n.*1226T>C
ENST00000623115.3:c.1040T>C	ENSP00000485321.1:p.Ile347Thr
ENST00000624341.3:c.762T>C
NM_000124.3:c.2930T>C	NP_000115.1:p.Ile977Thr
XR_945953.1:n.243-450A>G
NM_001346440.1:c.2930T>C	NP_001333369.1:p.Ile977Thr
NM_000124.4:c.2930T>C MANE Select	NP_000115.1:p.Ile977Thr
NM_001346440.2:c.2930T>C	NP_001333369.1:p.Ile977Thr