Canonical Allele Identifier: CA469600273

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669418A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461372A>C , CM000672.2:g.49461372A>C	GRCh38
NC_000010.10:g.50669418A>C , CM000672.1:g.50669418A>C	GRCh37
NC_000010.9:g.50339424A>C	NCBI36
NG_009442.1:g.82730T>G , LRG_465:g.82730T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3963T>G MANE Select	ENSP00000348089.5:p.Ser1321=
ENST00000679552.1:n.1034T>G
ENST00000679871.1:n.1109T>G
ENST00000679974.1:n.1012T>G
ENST00000681632.1:n.5366T>G
ENST00000681659.1:c.3804T>G	ENSP00000505631.1:p.Ser1268=
ENST00000355832.9:c.3963T>G	ENSP00000348089.5:p.Ser1321=
ENST00000465653.1:n.285T>G
ENST00000623073.3:c.*2259T>G	ENSP00000485650.1:n.*2259T>G
ENST00000623115.3:c.2073T>G	ENSP00000485321.1:p.Ser691=
ENST00000624341.3:c.1795T>G
NM_000124.3:c.3963T>G	NP_000115.1:p.Ser1321=
XR_945953.1:n.243-10193A>C
NM_001346440.1:c.3963T>G	NP_001333369.1:p.Ser1321=
NM_000124.4:c.3963T>G MANE Select	NP_000115.1:p.Ser1321=
NM_001346440.2:c.3963T>G	NP_001333369.1:p.Ser1321=