Canonical Allele Identifier: CA376708429

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461474-G-C
• MyVariant Identifiers: chr10:g.50669520G>C (hg19) ; chr10:g.49461474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461474G>C , CM000672.2:g.49461474G>C	GRCh38
NC_000010.10:g.50669520G>C , CM000672.1:g.50669520G>C	GRCh37
NC_000010.9:g.50339526G>C	NCBI36
NG_009442.1:g.82628C>G , LRG_465:g.82628C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3861C>G MANE Select	ENSP00000348089.5:p.Asn1287Lys
ENST00000679552.1:n.932C>G
ENST00000679871.1:n.1007C>G
ENST00000679974.1:n.910C>G
ENST00000681632.1:n.5264C>G
ENST00000681659.1:c.3702C>G	ENSP00000505631.1:p.Asn1234Lys
ENST00000355832.9:c.3861C>G	ENSP00000348089.5:p.Asn1287Lys
ENST00000465653.1:n.183C>G
ENST00000623073.3:c.*2157C>G	ENSP00000485650.1:n.*2157C>G
ENST00000623115.3:c.1971C>G	ENSP00000485321.1:p.Asn657Lys
ENST00000624341.3:c.1693C>G
NM_000124.3:c.3861C>G	NP_000115.1:p.Asn1287Lys
XR_945953.1:n.243-10091G>C
NM_001346440.1:c.3861C>G	NP_001333369.1:p.Asn1287Lys
NM_000124.4:c.3861C>G MANE Select	NP_000115.1:p.Asn1287Lys
NM_001346440.2:c.3861C>G	NP_001333369.1:p.Asn1287Lys