Canonical Allele Identifier: CA5495194

Gene: ERCC6

Linked Data

• dbSNP Id: rs758317802
• ExAC: 10:50668379 C / T
• gnomAD v4: 10-49460333-C-T
• MyVariant Identifiers: chr10:g.50668379C>T (hg19) ; chr10:g.49460333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460333C>T , CM000672.2:g.49460333C>T	GRCh38
NC_000010.10:g.50668379C>T , CM000672.1:g.50668379C>T	GRCh37
NC_000010.9:g.50338385C>T	NCBI36
NG_009442.1:g.83769G>A , LRG_465:g.83769G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+40G>A MANE Select	ENSP00000348089.5:n.4062+40G>A
ENST00000679552.1:n.1173G>A
ENST00000679871.1:n.1208+40G>A
ENST00000679974.1:n.1111+40G>A
ENST00000681632.1:n.5465+40G>A
ENST00000681659.1:c.3903+40G>A	ENSP00000505631.1:n.3903+40G>A
ENST00000355832.9:c.4062+40G>A	ENSP00000348089.5:n.4062+40G>A
ENST00000465653.1:n.424G>A
ENST00000623073.3:c.*2358+40G>A	ENSP00000485650.1:n.*2358+40G>A
ENST00000623115.3:c.2172+40G>A	ENSP00000485321.1:n.2172+40G>A
ENST00000624341.3:c.1894+40G>A
NM_000124.3:c.4062+40G>A	NP_000115.1:n.4062+40G>A
XR_945953.1:n.243-11232C>T
NM_001346440.1:c.4062+40G>A	NP_001333369.1:n.4062+40G>A
NM_000124.4:c.4062+40G>A MANE Select	NP_000115.1:n.4062+40G>A
NM_001346440.2:c.4062+40G>A	NP_001333369.1:n.4062+40G>A