Canonical Allele Identifier: CA593365155

Gene: ERCC6

Linked Data

• dbSNP Id: rs1272927248
• gnomAD v2: 10-50668392-G-A
• gnomAD v4: 10-49460346-G-A
• MyVariant Identifiers: chr10:g.50668392G>A (hg19) ; chr10:g.49460346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460346G>A , CM000672.2:g.49460346G>A	GRCh38
NC_000010.10:g.50668392G>A , CM000672.1:g.50668392G>A	GRCh37
NC_000010.9:g.50338398G>A	NCBI36
NG_009442.1:g.83756C>T , LRG_465:g.83756C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+27C>T MANE Select	ENSP00000348089.5:n.4062+27C>T
ENST00000679552.1:n.1160C>T
ENST00000679871.1:n.1208+27C>T
ENST00000679974.1:n.1111+27C>T
ENST00000681632.1:n.5465+27C>T
ENST00000681659.1:c.3903+27C>T	ENSP00000505631.1:n.3903+27C>T
ENST00000355832.9:c.4062+27C>T	ENSP00000348089.5:n.4062+27C>T
ENST00000465653.1:n.411C>T
ENST00000623073.3:c.*2358+27C>T	ENSP00000485650.1:n.*2358+27C>T
ENST00000623115.3:c.2172+27C>T	ENSP00000485321.1:n.2172+27C>T
ENST00000624341.3:c.1894+27C>T
NM_000124.3:c.4062+27C>T	NP_000115.1:n.4062+27C>T
XR_945953.1:n.243-11219G>A
NM_001346440.1:c.4062+27C>T	NP_001333369.1:n.4062+27C>T
NM_000124.4:c.4062+27C>T MANE Select	NP_000115.1:n.4062+27C>T
NM_001346440.2:c.4062+27C>T	NP_001333369.1:n.4062+27C>T