Canonical Allele Identifier: CA5495355

Gene: ERCC6

Linked Data

• dbSNP Id: rs769081319
• ExAC: 10:50678589 A / G
• gnomAD v2: 10-50678589-A-G
• gnomAD v4: 10-49470543-A-G
• MyVariant Identifiers: chr10:g.50678589A>G (hg19) ; chr10:g.49470543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470543A>G , CM000672.2:g.49470543A>G	GRCh38
NC_000010.10:g.50678589A>G , CM000672.1:g.50678589A>G	GRCh37
NC_000010.9:g.50348595A>G	NCBI36
NG_009442.1:g.73559T>C , LRG_465:g.73559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3417T>C MANE Select	ENSP00000348089.5:p.Ser1139=
ENST00000679552.1:n.488T>C
ENST00000679871.1:n.563T>C
ENST00000679974.1:n.466T>C
ENST00000681632.1:n.4820T>C
ENST00000681659.1:c.3258T>C	ENSP00000505631.1:p.Ser1086=
ENST00000355832.9:c.3417T>C	ENSP00000348089.5:p.Ser1139=
ENST00000623073.3:c.*1713T>C	ENSP00000485650.1:n.*1713T>C
ENST00000623115.3:c.1527T>C	ENSP00000485321.1:p.Ser509=
ENST00000624341.3:c.1249T>C
NM_000124.3:c.3417T>C	NP_000115.1:p.Ser1139=
XR_945953.1:n.243-1022A>G
NM_001346440.1:c.3417T>C	NP_001333369.1:p.Ser1139=
NM_000124.4:c.3417T>C MANE Select	NP_000115.1:p.Ser1139=
NM_001346440.2:c.3417T>C	NP_001333369.1:p.Ser1139=