Canonical Allele Identifier: CA666028506

Gene: ERCC6

Linked Data

• dbSNP Id: rs1289983868
• gnomAD v4: 10-49460245-C-T
• MyVariant Identifiers: chr10:g.50668291C>T (hg19) ; chr10:g.49460245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460245C>T , CM000672.2:g.49460245C>T	GRCh38
NC_000010.10:g.50668291C>T , CM000672.1:g.50668291C>T	GRCh37
NC_000010.9:g.50338297C>T	NCBI36
NG_009442.1:g.83857G>A , LRG_465:g.83857G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+128G>A MANE Select	ENSP00000348089.5:n.4062+128G>A
ENST00000679552.1:n.1261G>A
ENST00000679871.1:n.1208+128G>A
ENST00000679974.1:n.1111+128G>A
ENST00000681632.1:n.5465+128G>A
ENST00000681659.1:c.3903+128G>A	ENSP00000505631.1:n.3903+128G>A
ENST00000355832.9:c.4062+128G>A	ENSP00000348089.5:n.4062+128G>A
ENST00000465653.1:n.512G>A
ENST00000623073.3:c.*2358+128G>A	ENSP00000485650.1:n.*2358+128G>A
ENST00000623115.3:c.2172+128G>A	ENSP00000485321.1:n.2172+128G>A
ENST00000624341.3:c.1894+128G>A
NM_000124.3:c.4062+128G>A	NP_000115.1:n.4062+128G>A
XR_945953.1:n.243-11320C>T
NM_001346440.1:c.4062+128G>A	NP_001333369.1:n.4062+128G>A
NM_000124.4:c.4062+128G>A MANE Select	NP_000115.1:n.4062+128G>A
NM_001346440.2:c.4062+128G>A	NP_001333369.1:n.4062+128G>A