Canonical Allele Identifier: CA593365157

Gene: ERCC6

Linked Data

• dbSNP Id: rs1292564387
• gnomAD v2: 10-50668415-T-C
• gnomAD v4: 10-49460369-T-C
• MyVariant Identifiers: chr10:g.50668415T>C (hg19) ; chr10:g.49460369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460369T>C , CM000672.2:g.49460369T>C	GRCh38
NC_000010.10:g.50668415T>C , CM000672.1:g.50668415T>C	GRCh37
NC_000010.9:g.50338421T>C	NCBI36
NG_009442.1:g.83733A>G , LRG_465:g.83733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4062+4A>G MANE Select	ENSP00000348089.5:n.4062+4A>G
ENST00000679552.1:n.1137A>G
ENST00000679871.1:n.1208+4A>G
ENST00000679974.1:n.1111+4A>G
ENST00000681632.1:n.5465+4A>G
ENST00000681659.1:c.3903+4A>G	ENSP00000505631.1:n.3903+4A>G
ENST00000355832.9:c.4062+4A>G	ENSP00000348089.5:n.4062+4A>G
ENST00000465653.1:n.388A>G
ENST00000623073.3:c.*2358+4A>G	ENSP00000485650.1:n.*2358+4A>G
ENST00000623115.3:c.2172+4A>G	ENSP00000485321.1:n.2172+4A>G
ENST00000624341.3:c.1894+4A>G
NM_000124.3:c.4062+4A>G	NP_000115.1:n.4062+4A>G
XR_945953.1:n.243-11196T>C
NM_001346440.1:c.4062+4A>G	NP_001333369.1:n.4062+4A>G
NM_000124.4:c.4062+4A>G MANE Select	NP_000115.1:n.4062+4A>G
NM_001346440.2:c.4062+4A>G	NP_001333369.1:n.4062+4A>G