Canonical Allele Identifier: CA5495484

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 435082
• ClinVar RCV Id: RCV000502392 ; RCV001246953
• dbSNP Id: rs772801089
• ExAC: 10:50680423 G / A
• gnomAD v2: 10-50680423-G-A
• gnomAD v4: 10-49472377-G-A
• MyVariant Identifiers: chr10:g.50680423G>A (hg19) ; chr10:g.49472377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472377G>A , CM000672.2:g.49472377G>A	GRCh38
NC_000010.10:g.50680423G>A , CM000672.1:g.50680423G>A	GRCh37
NC_000010.9:g.50350429G>A	NCBI36
NG_009442.1:g.71725C>T , LRG_465:g.71725C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2923C>T MANE Select	ENSP00000348089.5:p.Arg975Ter
ENST00000681632.1:n.4326C>T
ENST00000681659.1:c.2764C>T	ENSP00000505631.1:p.Arg922Ter
ENST00000355832.9:c.2923C>T	ENSP00000348089.5:p.Arg975Ter
ENST00000623073.3:c.*1219C>T	ENSP00000485650.1:n.*1219C>T
ENST00000623115.3:c.1033C>T	ENSP00000485321.1:p.Arg345Ter
ENST00000624341.3:c.755C>T
NM_000124.3:c.2923C>T	NP_000115.1:p.Arg975Ter
XR_945953.1:n.690-326G>A
NM_001346440.1:c.2923C>T	NP_001333369.1:p.Arg975Ter
NM_000124.4:c.2923C>T MANE Select	NP_000115.1:p.Arg975Ter
NM_001346440.2:c.2923C>T	NP_001333369.1:p.Arg975Ter