Canonical Allele Identifier: CA5495312

Gene: ERCC6

Linked Data

• dbSNP Id: rs773955400
• ExAC: 10:50678380 G / C
• gnomAD v2: 10-50678380-G-C
• gnomAD v4: 10-49470334-G-C
• MyVariant Identifiers: chr10:g.50678380G>C (hg19) ; chr10:g.49470334G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470334G>C , CM000672.2:g.49470334G>C	GRCh38
NC_000010.10:g.50678380G>C , CM000672.1:g.50678380G>C	GRCh37
NC_000010.9:g.50348386G>C	NCBI36
NG_009442.1:g.73768C>G , LRG_465:g.73768C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3626C>G MANE Select	ENSP00000348089.5:p.Ser1209Cys
ENST00000679552.1:n.697C>G
ENST00000679871.1:n.772C>G
ENST00000679974.1:n.675C>G
ENST00000681632.1:n.5029C>G
ENST00000681659.1:c.3467C>G	ENSP00000505631.1:p.Ser1156Cys
ENST00000355832.9:c.3626C>G	ENSP00000348089.5:p.Ser1209Cys
ENST00000623073.3:c.*1922C>G	ENSP00000485650.1:n.*1922C>G
ENST00000623115.3:c.1736C>G	ENSP00000485321.1:p.Ser579Cys
ENST00000624341.3:c.1458C>G
NM_000124.3:c.3626C>G	NP_000115.1:p.Ser1209Cys
XR_945953.1:n.243-1231G>C
NM_001346440.1:c.3626C>G	NP_001333369.1:p.Ser1209Cys
NM_000124.4:c.3626C>G MANE Select	NP_000115.1:p.Ser1209Cys
NM_001346440.2:c.3626C>G	NP_001333369.1:p.Ser1209Cys