Canonical Allele Identifier: CA376717699

Gene: ERCC6

Linked Data

• dbSNP Id: rs1369390265
• gnomAD v2: 10-50679108-A-G
• gnomAD v4: 10-49471062-A-G
• MyVariant Identifiers: chr10:g.50679108A>G (hg19) ; chr10:g.49471062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471062A>G , CM000672.2:g.49471062A>G	GRCh38
NC_000010.10:g.50679108A>G , CM000672.1:g.50679108A>G	GRCh37
NC_000010.9:g.50349114A>G	NCBI36
NG_009442.1:g.73040T>C , LRG_465:g.73040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2983T>C MANE Select	ENSP00000348089.5:p.Phe995Leu
ENST00000679552.1:n.142-173T>C
ENST00000679871.1:n.129T>C
ENST00000679974.1:n.120-173T>C
ENST00000681632.1:n.4386T>C
ENST00000681659.1:c.2824T>C	ENSP00000505631.1:p.Phe942Leu
ENST00000355832.9:c.2983T>C	ENSP00000348089.5:p.Phe995Leu
ENST00000623073.3:c.*1279T>C	ENSP00000485650.1:n.*1279T>C
ENST00000623115.3:c.1093T>C	ENSP00000485321.1:p.Phe365Leu
ENST00000624341.3:c.815T>C
NM_000124.3:c.2983T>C	NP_000115.1:p.Phe995Leu
XR_945953.1:n.243-503A>G
NM_001346440.1:c.2983T>C	NP_001333369.1:p.Phe995Leu
NM_000124.4:c.2983T>C MANE Select	NP_000115.1:p.Phe995Leu
NM_001346440.2:c.2983T>C	NP_001333369.1:p.Phe995Leu