Canonical Allele Identifier: CA206575420

Gene: ERCC6

Linked Data

• dbSNP Id: rs911623880
• gnomAD v3: 10-49460318-C-T
• gnomAD v4: 10-49460318-C-T
• MyVariant Identifiers: chr10:g.50668364C>T (hg19) ; chr10:g.49460318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460318C>T , CM000672.2:g.49460318C>T	GRCh38
NC_000010.10:g.50668364C>T , CM000672.1:g.50668364C>T	GRCh37
NC_000010.9:g.50338370C>T	NCBI36
NG_009442.1:g.83784G>A , LRG_465:g.83784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4062+55G>A MANE Select	ENSP00000348089.5:n.4062+55G>A
ENST00000679552.1:n.1188G>A
ENST00000679871.1:n.1208+55G>A
ENST00000679974.1:n.1111+55G>A
ENST00000681632.1:n.5465+55G>A
ENST00000681659.1:c.3903+55G>A	ENSP00000505631.1:n.3903+55G>A
ENST00000355832.9:c.4062+55G>A	ENSP00000348089.5:n.4062+55G>A
ENST00000465653.1:n.439G>A
ENST00000623073.3:c.*2358+55G>A	ENSP00000485650.1:n.*2358+55G>A
ENST00000623115.3:c.2172+55G>A	ENSP00000485321.1:n.2172+55G>A
ENST00000624341.3:c.1894+55G>A
NM_000124.3:c.4062+55G>A	NP_000115.1:n.4062+55G>A
XR_945953.1:n.243-11247C>T
NM_001346440.1:c.4062+55G>A	NP_001333369.1:n.4062+55G>A
NM_000124.4:c.4062+55G>A MANE Select	NP_000115.1:n.4062+55G>A
NM_001346440.2:c.4062+55G>A	NP_001333369.1:n.4062+55G>A