Canonical Allele Identifier: CA376712828

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678312G>C (hg19) ; chr10:g.49470266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470266G>C , CM000672.2:g.49470266G>C	GRCh38
NC_000010.10:g.50678312G>C , CM000672.1:g.50678312G>C	GRCh37
NC_000010.9:g.50348318G>C	NCBI36
NG_009442.1:g.73836C>G , LRG_465:g.73836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3694C>G MANE Select	ENSP00000348089.5:p.Gln1232Glu
ENST00000679552.1:n.765C>G
ENST00000679871.1:n.840C>G
ENST00000679974.1:n.743C>G
ENST00000681632.1:n.5097C>G
ENST00000681659.1:c.3535C>G	ENSP00000505631.1:p.Gln1179Glu
ENST00000355832.9:c.3694C>G	ENSP00000348089.5:p.Gln1232Glu
ENST00000465653.1:n.16C>G
ENST00000623073.3:c.*1990C>G	ENSP00000485650.1:n.*1990C>G
ENST00000623115.3:c.1804C>G	ENSP00000485321.1:p.Gln602Glu
ENST00000624341.3:c.1526C>G
NM_000124.3:c.3694C>G	NP_000115.1:p.Gln1232Glu
XR_945953.1:n.243-1299G>C
NM_001346440.1:c.3694C>G	NP_001333369.1:p.Gln1232Glu
NM_000124.4:c.3694C>G MANE Select	NP_000115.1:p.Gln1232Glu
NM_001346440.2:c.3694C>G	NP_001333369.1:p.Gln1232Glu