Canonical Allele Identifier: CA376716259

Gene: ERCC6

Linked Data

• dbSNP Id: rs779608430
• gnomAD v3: 10-49470732-T-G
• gnomAD v4: 10-49470732-T-G
• MyVariant Identifiers: chr10:g.50678778T>G (hg19) ; chr10:g.49470732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470732T>G , CM000672.2:g.49470732T>G	GRCh38
NC_000010.10:g.50678778T>G , CM000672.1:g.50678778T>G	GRCh37
NC_000010.9:g.50348784T>G	NCBI36
NG_009442.1:g.73370A>C , LRG_465:g.73370A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3228A>C MANE Select	ENSP00000348089.5:p.Lys1076Asn
ENST00000679552.1:n.299A>C
ENST00000679871.1:n.374A>C
ENST00000679974.1:n.277A>C
ENST00000681632.1:n.4631A>C
ENST00000681659.1:c.3069A>C	ENSP00000505631.1:p.Lys1023Asn
ENST00000355832.9:c.3228A>C	ENSP00000348089.5:p.Lys1076Asn
ENST00000623073.3:c.*1524A>C	ENSP00000485650.1:n.*1524A>C
ENST00000623115.3:c.1338A>C	ENSP00000485321.1:p.Lys446Asn
ENST00000624341.3:c.1060A>C
NM_000124.3:c.3228A>C	NP_000115.1:p.Lys1076Asn
XR_945953.1:n.243-833T>G
NM_001346440.1:c.3228A>C	NP_001333369.1:p.Lys1076Asn
NM_000124.4:c.3228A>C MANE Select	NP_000115.1:p.Lys1076Asn
NM_001346440.2:c.3228A>C	NP_001333369.1:p.Lys1076Asn