Canonical Allele Identifier: CA206575443

Gene: ERCC6

Linked Data

• dbSNP Id: rs771003061
• gnomAD v4: 10-49460341-A-C
• MyVariant Identifiers: chr10:g.50668387A>C (hg19) ; chr10:g.49460341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460341A>C , CM000672.2:g.49460341A>C	GRCh38
NC_000010.10:g.50668387A>C , CM000672.1:g.50668387A>C	GRCh37
NC_000010.9:g.50338393A>C	NCBI36
NG_009442.1:g.83761T>G , LRG_465:g.83761T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+32T>G MANE Select	ENSP00000348089.5:n.4062+32T>G
ENST00000679552.1:n.1165T>G
ENST00000679871.1:n.1208+32T>G
ENST00000679974.1:n.1111+32T>G
ENST00000681632.1:n.5465+32T>G
ENST00000681659.1:c.3903+32T>G	ENSP00000505631.1:n.3903+32T>G
ENST00000355832.9:c.4062+32T>G	ENSP00000348089.5:n.4062+32T>G
ENST00000465653.1:n.416T>G
ENST00000623073.3:c.*2358+32T>G	ENSP00000485650.1:n.*2358+32T>G
ENST00000623115.3:c.2172+32T>G	ENSP00000485321.1:n.2172+32T>G
ENST00000624341.3:c.1894+32T>G
NM_000124.3:c.4062+32T>G	NP_000115.1:n.4062+32T>G
XR_945953.1:n.243-11224A>C
NM_001346440.1:c.4062+32T>G	NP_001333369.1:n.4062+32T>G
NM_000124.4:c.4062+32T>G MANE Select	NP_000115.1:n.4062+32T>G
NM_001346440.2:c.4062+32T>G	NP_001333369.1:n.4062+32T>G