Canonical Allele Identifier: CA469600431

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669595C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461549C>G , CM000672.2:g.49461549C>G	GRCh38
NC_000010.10:g.50669595C>G , CM000672.1:g.50669595C>G	GRCh37
NC_000010.9:g.50339601C>G	NCBI36
NG_009442.1:g.82553G>C , LRG_465:g.82553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3786G>C MANE Select	ENSP00000348089.5:p.Val1262=
ENST00000679552.1:n.857G>C
ENST00000679871.1:n.932G>C
ENST00000679974.1:n.835G>C
ENST00000681632.1:n.5189G>C
ENST00000681659.1:c.3627G>C	ENSP00000505631.1:p.Val1209=
ENST00000355832.9:c.3786G>C	ENSP00000348089.5:p.Val1262=
ENST00000465653.1:n.108G>C
ENST00000623073.3:c.*2082G>C	ENSP00000485650.1:n.*2082G>C
ENST00000623115.3:c.1896G>C	ENSP00000485321.1:p.Val632=
ENST00000624341.3:c.1618G>C
NM_000124.3:c.3786G>C	NP_000115.1:p.Val1262=
XR_945953.1:n.243-10016C>G
NM_001346440.1:c.3786G>C	NP_001333369.1:p.Val1262=
NM_000124.4:c.3786G>C MANE Select	NP_000115.1:p.Val1262=
NM_001346440.2:c.3786G>C	NP_001333369.1:p.Val1262=