Canonical Allele Identifier: CA199594

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 190165
• ClinVar RCV Id: RCV000170383 ; RCV000262811 ; RCV000301771 ; RCV000355263 ; RCV000872057
• dbSNP Id: rs4253207
• ExAC: 10:50678829 A / G
• gnomAD v2: 10-50678829-A-G
• gnomAD v3: 10-49470783-A-G
• gnomAD v4: 10-49470783-A-G
• MyVariant Identifiers: chr10:g.50678829A>G (hg19) ; chr10:g.49470783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470783A>G , CM000672.2:g.49470783A>G	GRCh38
NC_000010.10:g.50678829A>G , CM000672.1:g.50678829A>G	GRCh37
NC_000010.9:g.50348835A>G	NCBI36
NG_009442.1:g.73319T>C , LRG_465:g.73319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3177T>C MANE Select	ENSP00000348089.5:p.Ser1059=
ENST00000679552.1:n.248T>C
ENST00000679871.1:n.323T>C
ENST00000679974.1:n.226T>C
ENST00000681632.1:n.4580T>C
ENST00000681659.1:c.3018T>C	ENSP00000505631.1:p.Ser1006=
ENST00000355832.9:c.3177T>C	ENSP00000348089.5:p.Ser1059=
ENST00000623073.3:c.*1473T>C	ENSP00000485650.1:n.*1473T>C
ENST00000623115.3:c.1287T>C	ENSP00000485321.1:p.Ser429=
ENST00000624341.3:c.1009T>C
NM_000124.3:c.3177T>C	NP_000115.1:p.Ser1059=
XR_945953.1:n.243-782A>G
NM_001346440.1:c.3177T>C	NP_001333369.1:p.Ser1059=
NM_000124.4:c.3177T>C MANE Select	NP_000115.1:p.Ser1059=
NM_001346440.2:c.3177T>C	NP_001333369.1:p.Ser1059=