Canonical Allele Identifier: CA5495972

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300080
• ClinVar RCV Id: RCV000280376 ; RCV000335550 ; RCV000402785 ; RCV003114473
• dbSNP Id: rs61749175
• ExAC: 10:50714021 G / A
• gnomAD v2: 10-50714021-G-A
• gnomAD v3: 10-49505975-G-A
• gnomAD v4: 10-49505975-G-A
• MyVariant Identifiers: chr10:g.50714021G>A (hg19) ; chr10:g.49505975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49505975G>A , CM000672.2:g.49505975G>A	GRCh38
NC_000010.10:g.50714021G>A , CM000672.1:g.50714021G>A	GRCh37
NC_000010.9:g.50384027G>A	NCBI36
NG_009442.1:g.38127C>T , LRG_465:g.38127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1435C>T MANE Select	ENSP00000348089.5:p.Arg479Cys
ENST00000679811.1:n.1518C>T
ENST00000681632.1:n.1513C>T
ENST00000681659.1:c.1435C>T	ENSP00000505631.1:p.Arg479Cys
ENST00000355832.9:c.1435C>T	ENSP00000348089.5:p.Arg479Cys
ENST00000475116.1:n.25C>T
ENST00000623073.3:c.-5352C>T	ENSP00000485650.1:n.-5352C>T
ENST00000623788.1:n.434C>T
NM_000124.3:c.1435C>T	NP_000115.1:p.Arg479Cys
NM_001346440.1:c.1435C>T	NP_001333369.1:p.Arg479Cys
NM_000124.4:c.1435C>T MANE Select	NP_000115.1:p.Arg479Cys
NM_001346440.2:c.1435C>T	NP_001333369.1:p.Arg479Cys