Canonical Allele Identifier: CA376724271

Gene: ERCC6

Linked Data

• dbSNP Id: rs1445730075
• gnomAD v2: 10-50690802-C-A
• gnomAD v4: 10-49482756-C-A
• MyVariant Identifiers: chr10:g.50690802C>A (hg19) ; chr10:g.49482756C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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