Canonical Allele Identifier: CA376724272

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690802C>G (hg19) ; chr10:g.49482756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482756C>G , CM000672.2:g.49482756C>G	GRCh38
NC_000010.10:g.50690802C>G , CM000672.1:g.50690802C>G	GRCh37
NC_000010.9:g.50360808C>G	NCBI36
NG_009442.1:g.61346G>C , LRG_465:g.61346G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2100G>C MANE Select	ENSP00000348089.5:p.Leu700Phe
ENST00000681632.1:n.2178G>C
ENST00000681659.1:c.1941G>C	ENSP00000505631.1:p.Leu647Phe
ENST00000355832.9:c.2100G>C	ENSP00000348089.5:p.Leu700Phe
ENST00000623073.3:c.*492G>C	ENSP00000485650.1:n.*492G>C
ENST00000623115.3:c.210G>C	ENSP00000485321.1:p.Leu70Phe
NM_000124.3:c.2100G>C	NP_000115.1:p.Leu700Phe
NM_001346440.1:c.2100G>C	NP_001333369.1:p.Leu700Phe
NM_000124.4:c.2100G>C MANE Select	NP_000115.1:p.Leu700Phe
NM_001346440.2:c.2100G>C	NP_001333369.1:p.Leu700Phe