Canonical Allele Identifier: CA376708428

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461473-G-C
• MyVariant Identifiers: chr10:g.50669519G>C (hg19) ; chr10:g.49461473G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461473G>C , CM000672.2:g.49461473G>C	GRCh38
NC_000010.10:g.50669519G>C , CM000672.1:g.50669519G>C	GRCh37
NC_000010.9:g.50339525G>C	NCBI36
NG_009442.1:g.82629C>G , LRG_465:g.82629C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3862C>G MANE Select	ENSP00000348089.5:p.Arg1288Gly
ENST00000679552.1:n.933C>G
ENST00000679871.1:n.1008C>G
ENST00000679974.1:n.911C>G
ENST00000681632.1:n.5265C>G
ENST00000681659.1:c.3703C>G	ENSP00000505631.1:p.Arg1235Gly
ENST00000355832.9:c.3862C>G	ENSP00000348089.5:p.Arg1288Gly
ENST00000465653.1:n.184C>G
ENST00000623073.3:c.*2158C>G	ENSP00000485650.1:n.*2158C>G
ENST00000623115.3:c.1972C>G	ENSP00000485321.1:p.Arg658Gly
ENST00000624341.3:c.1694C>G
NM_000124.3:c.3862C>G	NP_000115.1:p.Arg1288Gly
XR_945953.1:n.243-10092G>C
NM_001346440.1:c.3862C>G	NP_001333369.1:p.Arg1288Gly
NM_000124.4:c.3862C>G MANE Select	NP_000115.1:p.Arg1288Gly
NM_001346440.2:c.3862C>G	NP_001333369.1:p.Arg1288Gly