Canonical Allele Identifier: CA376704862

Gene: ERCC6

Linked Data

• dbSNP Id: rs1300774334
• gnomAD v2: 10-50667279-T-G
• gnomAD v3: 10-49459233-T-G
• gnomAD v4: 10-49459233-T-G
• MyVariant Identifiers: chr10:g.50667279T>G (hg19) ; chr10:g.49459233T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459233T>G , CM000672.2:g.49459233T>G	GRCh38
NC_000010.10:g.50667279T>G , CM000672.1:g.50667279T>G	GRCh37
NC_000010.9:g.50337285T>G	NCBI36
NG_009442.1:g.84869A>C , LRG_465:g.84869A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4064A>C MANE Select	ENSP00000348089.5:p.Asp1355Ala
ENST00000679552.1:n.2273A>C
ENST00000679871.1:n.1210A>C
ENST00000679974.1:n.1113A>C
ENST00000681632.1:n.5467A>C
ENST00000681659.1:c.3905A>C	ENSP00000505631.1:p.Asp1302Ala
ENST00000355832.9:c.4064A>C	ENSP00000348089.5:p.Asp1355Ala
ENST00000623073.3:c.*2360A>C	ENSP00000485650.1:n.*2360A>C
ENST00000623115.3:c.2174A>C	ENSP00000485321.1:p.Asp725Ala
ENST00000624341.3:c.1896A>C
NM_000124.3:c.4064A>C	NP_000115.1:p.Asp1355Ala
XR_945953.1:n.243-12332T>G
NM_001346440.1:c.4064A>C	NP_001333369.1:p.Asp1355Ala
NM_000124.4:c.4064A>C MANE Select	NP_000115.1:p.Asp1355Ala
NM_001346440.2:c.4064A>C	NP_001333369.1:p.Asp1355Ala