Canonical Allele Identifier: CA376715992

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470683-C-G
• MyVariant Identifiers: chr10:g.50678729C>G (hg19) ; chr10:g.49470683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470683C>G , CM000672.2:g.49470683C>G	GRCh38
NC_000010.10:g.50678729C>G , CM000672.1:g.50678729C>G	GRCh37
NC_000010.9:g.50348735C>G	NCBI36
NG_009442.1:g.73419G>C , LRG_465:g.73419G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3277G>C MANE Select	ENSP00000348089.5:p.Asp1093His
ENST00000679552.1:n.348G>C
ENST00000679871.1:n.423G>C
ENST00000679974.1:n.326G>C
ENST00000681632.1:n.4680G>C
ENST00000681659.1:c.3118G>C	ENSP00000505631.1:p.Asp1040His
ENST00000355832.9:c.3277G>C	ENSP00000348089.5:p.Asp1093His
ENST00000623073.3:c.*1573G>C	ENSP00000485650.1:n.*1573G>C
ENST00000623115.3:c.1387G>C	ENSP00000485321.1:p.Asp463His
ENST00000624341.3:c.1109G>C
NM_000124.3:c.3277G>C	NP_000115.1:p.Asp1093His
XR_945953.1:n.243-882C>G
NM_001346440.1:c.3277G>C	NP_001333369.1:p.Asp1093His
NM_000124.4:c.3277G>C MANE Select	NP_000115.1:p.Asp1093His
NM_001346440.2:c.3277G>C	NP_001333369.1:p.Asp1093His