Canonical Allele Identifier: CA376708514

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669539A>C (hg19) ; chr10:g.49461493A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461493A>C , CM000672.2:g.49461493A>C	GRCh38
NC_000010.10:g.50669539A>C , CM000672.1:g.50669539A>C	GRCh37
NC_000010.9:g.50339545A>C	NCBI36
NG_009442.1:g.82609T>G , LRG_465:g.82609T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3842T>G MANE Select	ENSP00000348089.5:p.Leu1281Arg
ENST00000679552.1:n.913T>G
ENST00000679871.1:n.988T>G
ENST00000679974.1:n.891T>G
ENST00000681632.1:n.5245T>G
ENST00000681659.1:c.3683T>G	ENSP00000505631.1:p.Leu1228Arg
ENST00000355832.9:c.3842T>G	ENSP00000348089.5:p.Leu1281Arg
ENST00000465653.1:n.164T>G
ENST00000623073.3:c.*2138T>G	ENSP00000485650.1:n.*2138T>G
ENST00000623115.3:c.1952T>G	ENSP00000485321.1:p.Leu651Arg
ENST00000624341.3:c.1674T>G
NM_000124.3:c.3842T>G	NP_000115.1:p.Leu1281Arg
XR_945953.1:n.243-10072A>C
NM_001346440.1:c.3842T>G	NP_001333369.1:p.Leu1281Arg
NM_000124.4:c.3842T>G MANE Select	NP_000115.1:p.Leu1281Arg
NM_001346440.2:c.3842T>G	NP_001333369.1:p.Leu1281Arg