Canonical Allele Identifier: CA593365151

Gene: ERCC6

Linked Data

• dbSNP Id: rs1436177674
• gnomAD v2: 10-50668373-A-G
• gnomAD v3: 10-49460327-A-G
• gnomAD v4: 10-49460327-A-G
• MyVariant Identifiers: chr10:g.50668373A>G (hg19) ; chr10:g.49460327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460327A>G , CM000672.2:g.49460327A>G	GRCh38
NC_000010.10:g.50668373A>G , CM000672.1:g.50668373A>G	GRCh37
NC_000010.9:g.50338379A>G	NCBI36
NG_009442.1:g.83775T>C , LRG_465:g.83775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4062+46T>C MANE Select	ENSP00000348089.5:n.4062+46T>C
ENST00000679552.1:n.1179T>C
ENST00000679871.1:n.1208+46T>C
ENST00000679974.1:n.1111+46T>C
ENST00000681632.1:n.5465+46T>C
ENST00000681659.1:c.3903+46T>C	ENSP00000505631.1:n.3903+46T>C
ENST00000355832.9:c.4062+46T>C	ENSP00000348089.5:n.4062+46T>C
ENST00000465653.1:n.430T>C
ENST00000623073.3:c.*2358+46T>C	ENSP00000485650.1:n.*2358+46T>C
ENST00000623115.3:c.2172+46T>C	ENSP00000485321.1:n.2172+46T>C
ENST00000624341.3:c.1894+46T>C
NM_000124.3:c.4062+46T>C	NP_000115.1:n.4062+46T>C
XR_945953.1:n.243-11238A>G
NM_001346440.1:c.4062+46T>C	NP_001333369.1:n.4062+46T>C
NM_000124.4:c.4062+46T>C MANE Select	NP_000115.1:n.4062+46T>C
NM_001346440.2:c.4062+46T>C	NP_001333369.1:n.4062+46T>C