Canonical Allele Identifier: CA593365459

Gene: ERCC6

Linked Data

• dbSNP Id: rs1176668162
• gnomAD v2: 10-50678189-A-T
• gnomAD v3: 10-49470143-A-T
• gnomAD v4: 10-49470143-A-T
• MyVariant Identifiers: chr10:g.50678189A>T (hg19) ; chr10:g.49470143A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470143A>T , CM000672.2:g.49470143A>T	GRCh38
NC_000010.10:g.50678189A>T , CM000672.1:g.50678189A>T	GRCh37
NC_000010.9:g.50348195A>T	NCBI36
NG_009442.1:g.73959T>A , LRG_465:g.73959T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+39T>A MANE Select	ENSP00000348089.5:n.3778+39T>A
ENST00000679552.1:n.849+39T>A
ENST00000679871.1:n.924+39T>A
ENST00000679974.1:n.827+39T>A
ENST00000681632.1:n.5181+39T>A
ENST00000681659.1:c.3619+39T>A	ENSP00000505631.1:n.3619+39T>A
ENST00000355832.9:c.3778+39T>A	ENSP00000348089.5:n.3778+39T>A
ENST00000465653.1:n.100+39T>A
ENST00000623073.3:c.*2074+39T>A	ENSP00000485650.1:n.*2074+39T>A
ENST00000623115.3:c.1888+39T>A	ENSP00000485321.1:n.1888+39T>A
ENST00000624341.3:c.1610+39T>A
NM_000124.3:c.3778+39T>A	NP_000115.1:n.3778+39T>A
XR_945953.1:n.243-1422A>T
NM_001346440.1:c.3778+39T>A	NP_001333369.1:n.3778+39T>A
NM_000124.4:c.3778+39T>A MANE Select	NP_000115.1:n.3778+39T>A
NM_001346440.2:c.3778+39T>A	NP_001333369.1:n.3778+39T>A