Canonical Allele Identifier: CA593780671

Gene: ERCC6

Linked Data

• dbSNP Id: rs1189765496
• gnomAD v2: 10-50690716-T-C
• gnomAD v4: 10-49482670-T-C
• MyVariant Identifiers: chr10:g.50690716T>C (hg19) ; chr10:g.49482670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482670T>C , CM000672.2:g.49482670T>C	GRCh38
NC_000010.10:g.50690716T>C , CM000672.1:g.50690716T>C	GRCh37
NC_000010.9:g.50360722T>C	NCBI36
NG_009442.1:g.61432A>G , LRG_465:g.61432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2169+17A>G MANE Select	ENSP00000348089.5:n.2169+17A>G
ENST00000681632.1:n.2247+17A>G
ENST00000681659.1:c.2010+17A>G	ENSP00000505631.1:n.2010+17A>G
ENST00000355832.9:c.2169+17A>G	ENSP00000348089.5:n.2169+17A>G
ENST00000623073.3:c.*561+17A>G	ENSP00000485650.1:n.*561+17A>G
ENST00000623115.3:c.279+17A>G	ENSP00000485321.1:n.279+17A>G
NM_000124.3:c.2169+17A>G	NP_000115.1:n.2169+17A>G
NM_001346440.1:c.2169+17A>G	NP_001333369.1:n.2169+17A>G
NM_000124.4:c.2169+17A>G MANE Select	NP_000115.1:n.2169+17A>G
NM_001346440.2:c.2169+17A>G	NP_001333369.1:n.2169+17A>G