Canonical Allele Identifier: CA376708762

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669588C>G (hg19) ; chr10:g.49461542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461542C>G , CM000672.2:g.49461542C>G	GRCh38
NC_000010.10:g.50669588C>G , CM000672.1:g.50669588C>G	GRCh37
NC_000010.9:g.50339594C>G	NCBI36
NG_009442.1:g.82560G>C , LRG_465:g.82560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3793G>C MANE Select	ENSP00000348089.5:p.Val1265Leu
ENST00000679552.1:n.864G>C
ENST00000679871.1:n.939G>C
ENST00000679974.1:n.842G>C
ENST00000681632.1:n.5196G>C
ENST00000681659.1:c.3634G>C	ENSP00000505631.1:p.Val1212Leu
ENST00000355832.9:c.3793G>C	ENSP00000348089.5:p.Val1265Leu
ENST00000465653.1:n.115G>C
ENST00000623073.3:c.*2089G>C	ENSP00000485650.1:n.*2089G>C
ENST00000623115.3:c.1903G>C	ENSP00000485321.1:p.Val635Leu
ENST00000624341.3:c.1625G>C
NM_000124.3:c.3793G>C	NP_000115.1:p.Val1265Leu
XR_945953.1:n.243-10023C>G
NM_001346440.1:c.3793G>C	NP_001333369.1:p.Val1265Leu
NM_000124.4:c.3793G>C MANE Select	NP_000115.1:p.Val1265Leu
NM_001346440.2:c.3793G>C	NP_001333369.1:p.Val1265Leu