Canonical Allele Identifier: CA5495237

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2142802
• ClinVar RCV Id: RCV003076403
• dbSNP Id: rs753496156
• ExAC: 10:50669479 C / T
• gnomAD v2: 10-50669479-C-T
• gnomAD v3: 10-49461433-C-T
• gnomAD v4: 10-49461433-C-T
• MyVariant Identifiers: chr10:g.50669479C>T (hg19) ; chr10:g.49461433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461433C>T , CM000672.2:g.49461433C>T	GRCh38
NC_000010.10:g.50669479C>T , CM000672.1:g.50669479C>T	GRCh37
NC_000010.9:g.50339485C>T	NCBI36
NG_009442.1:g.82669G>A , LRG_465:g.82669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3902G>A MANE Select	ENSP00000348089.5:p.Arg1301His
ENST00000679552.1:n.973G>A
ENST00000679871.1:n.1048G>A
ENST00000679974.1:n.951G>A
ENST00000681632.1:n.5305G>A
ENST00000681659.1:c.3743G>A	ENSP00000505631.1:p.Arg1248His
ENST00000355832.9:c.3902G>A	ENSP00000348089.5:p.Arg1301His
ENST00000465653.1:n.224G>A
ENST00000623073.3:c.*2198G>A	ENSP00000485650.1:n.*2198G>A
ENST00000623115.3:c.2012G>A	ENSP00000485321.1:p.Arg671His
ENST00000624341.3:c.1734G>A
NM_000124.3:c.3902G>A	NP_000115.1:p.Arg1301His
XR_945953.1:n.243-10132C>T
NM_001346440.1:c.3902G>A	NP_001333369.1:p.Arg1301His
NM_000124.4:c.3902G>A MANE Select	NP_000115.1:p.Arg1301His
NM_001346440.2:c.3902G>A	NP_001333369.1:p.Arg1301His