Canonical Allele Identifier: CA469600258

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669409T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461363T>C , CM000672.2:g.49461363T>C	GRCh38
NC_000010.10:g.50669409T>C , CM000672.1:g.50669409T>C	GRCh37
NC_000010.9:g.50339415T>C	NCBI36
NG_009442.1:g.82739A>G , LRG_465:g.82739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3972A>G MANE Select	ENSP00000348089.5:p.Pro1324=
ENST00000679552.1:n.1043A>G
ENST00000679871.1:n.1118A>G
ENST00000679974.1:n.1021A>G
ENST00000681632.1:n.5375A>G
ENST00000681659.1:c.3813A>G	ENSP00000505631.1:p.Pro1271=
ENST00000355832.9:c.3972A>G	ENSP00000348089.5:p.Pro1324=
ENST00000465653.1:n.294A>G
ENST00000623073.3:c.*2268A>G	ENSP00000485650.1:n.*2268A>G
ENST00000623115.3:c.2082A>G	ENSP00000485321.1:p.Pro694=
ENST00000624341.3:c.1804A>G
NM_000124.3:c.3972A>G	NP_000115.1:p.Pro1324=
XR_945953.1:n.243-10202T>C
NM_001346440.1:c.3972A>G	NP_001333369.1:p.Pro1324=
NM_000124.4:c.3972A>G MANE Select	NP_000115.1:p.Pro1324=
NM_001346440.2:c.3972A>G	NP_001333369.1:p.Pro1324=