Canonical Allele Identifier: CA376708629

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669564C>G (hg19) ; chr10:g.49461518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461518C>G , CM000672.2:g.49461518C>G	GRCh38
NC_000010.10:g.50669564C>G , CM000672.1:g.50669564C>G	GRCh37
NC_000010.9:g.50339570C>G	NCBI36
NG_009442.1:g.82584G>C , LRG_465:g.82584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3817G>C MANE Select	ENSP00000348089.5:p.Asp1273His
ENST00000679552.1:n.888G>C
ENST00000679871.1:n.963G>C
ENST00000679974.1:n.866G>C
ENST00000681632.1:n.5220G>C
ENST00000681659.1:c.3658G>C	ENSP00000505631.1:p.Asp1220His
ENST00000355832.9:c.3817G>C	ENSP00000348089.5:p.Asp1273His
ENST00000465653.1:n.139G>C
ENST00000623073.3:c.*2113G>C	ENSP00000485650.1:n.*2113G>C
ENST00000623115.3:c.1927G>C	ENSP00000485321.1:p.Asp643His
ENST00000624341.3:c.1649G>C
NM_000124.3:c.3817G>C	NP_000115.1:p.Asp1273His
XR_945953.1:n.243-10047C>G
NM_001346440.1:c.3817G>C	NP_001333369.1:p.Asp1273His
NM_000124.4:c.3817G>C MANE Select	NP_000115.1:p.Asp1273His
NM_001346440.2:c.3817G>C	NP_001333369.1:p.Asp1273His