Canonical Allele Identifier: CA5496417

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300091
• ClinVar RCV Id: RCV000293985 ; RCV000346592 ; RCV000385141 ; RCV002520599 ; RCV002520598
• dbSNP Id: rs766256094
• ExAC: 10:50732575 G / A
• gnomAD v2: 10-50732575-G-A
• gnomAD v3: 10-49524529-G-A
• gnomAD v4: 10-49524529-G-A
• MyVariant Identifiers: chr10:g.50732575G>A (hg19) ; chr10:g.49524529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524529G>A , CM000672.2:g.49524529G>A	GRCh38
NC_000010.10:g.50732575G>A , CM000672.1:g.50732575G>A	GRCh37
NC_000010.9:g.50402581G>A	NCBI36
NG_009442.1:g.19573C>T , LRG_465:g.19573C>T
NG_033155.1:g.4753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.901C>T MANE Select	ENSP00000348089.5:p.Pro301Ser
ENST00000447839.7:c.901C>T MANE Plus Clinical	ENSP00000387966.2:p.Pro301Ser
ENST00000679596.1:c.*530C>T	ENSP00000504862.1:n.*530C>T
ENST00000679811.1:n.984C>T
ENST00000680107.1:c.652+3888C>T	ENSP00000505909.1:n.652+3888C>T
ENST00000680233.1:n.994C>T
ENST00000681632.1:n.979C>T
ENST00000681659.1:c.901C>T	ENSP00000505631.1:p.Pro301Ser
ENST00000355832.9:c.901C>T	ENSP00000348089.5:p.Pro301Ser
ENST00000447839.6:c.901C>T	ENSP00000387966.2:p.Pro301Ser
ENST00000515869.1:c.901C>T	ENSP00000423550.1:p.Pro301Ser
NM_000124.3:c.901C>T	NP_000115.1:p.Pro301Ser
NM_001277058.1:c.901C>T	NP_001263987.1:p.Pro301Ser
NM_001277059.1:c.901C>T	NP_001263988.1:p.Pro301Ser
NM_001346440.1:c.901C>T	NP_001333369.1:p.Pro301Ser
NM_000124.4:c.901C>T MANE Select	NP_000115.1:p.Pro301Ser
NM_001277058.2:c.901C>T MANE Plus Clinical	NP_001263987.1:p.Pro301Ser
NM_001277059.2:c.901C>T	NP_001263988.1:p.Pro301Ser
NM_001346440.2:c.901C>T	NP_001333369.1:p.Pro301Ser