Canonical Allele Identifier: CA5495251

Gene: ERCC6

Linked Data

• dbSNP Id: rs760714732
• ExAC: 10:50669532 C / T
• gnomAD v2: 10-50669532-C-T
• gnomAD v4: 10-49461486-C-T
• MyVariant Identifiers: chr10:g.50669532C>T (hg19) ; chr10:g.49461486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461486C>T , CM000672.2:g.49461486C>T	GRCh38
NC_000010.10:g.50669532C>T , CM000672.1:g.50669532C>T	GRCh37
NC_000010.9:g.50339538C>T	NCBI36
NG_009442.1:g.82616G>A , LRG_465:g.82616G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3849G>A MANE Select	ENSP00000348089.5:p.Glu1283=
ENST00000679552.1:n.920G>A
ENST00000679871.1:n.995G>A
ENST00000679974.1:n.898G>A
ENST00000681632.1:n.5252G>A
ENST00000681659.1:c.3690G>A	ENSP00000505631.1:p.Glu1230=
ENST00000355832.9:c.3849G>A	ENSP00000348089.5:p.Glu1283=
ENST00000465653.1:n.171G>A
ENST00000623073.3:c.*2145G>A	ENSP00000485650.1:n.*2145G>A
ENST00000623115.3:c.1959G>A	ENSP00000485321.1:p.Glu653=
ENST00000624341.3:c.1681G>A
NM_000124.3:c.3849G>A	NP_000115.1:p.Glu1283=
XR_945953.1:n.243-10079C>T
NM_001346440.1:c.3849G>A	NP_001333369.1:p.Glu1283=
NM_000124.4:c.3849G>A MANE Select	NP_000115.1:p.Glu1283=
NM_001346440.2:c.3849G>A	NP_001333369.1:p.Glu1283=