Canonical Allele Identifier: CA376726598

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493214-G-T
• MyVariant Identifiers: chr10:g.50701260G>T (hg19) ; chr10:g.49493214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493214G>T , CM000672.2:g.49493214G>T	GRCh38
NC_000010.10:g.50701260G>T , CM000672.1:g.50701260G>T	GRCh37
NC_000010.9:g.50371266G>T	NCBI36
NG_009442.1:g.50888C>A , LRG_465:g.50888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1724C>A MANE Select	ENSP00000348089.5:p.Thr575Lys
ENST00000681632.1:n.1802C>A
ENST00000681659.1:c.1565C>A	ENSP00000505631.1:p.Thr522Lys
ENST00000355832.9:c.1724C>A	ENSP00000348089.5:p.Thr575Lys
ENST00000475116.1:n.275+7324C>A
ENST00000623073.3:c.125C>A	ENSP00000485650.1:p.Thr42Lys
ENST00000623115.3:c.-70+7324C>A	ENSP00000485321.1:n.-70+7324C>A
ENST00000623318.1:c.125C>A	ENSP00000485423.1:p.Thr42Lys
NM_000124.3:c.1724C>A	NP_000115.1:p.Thr575Lys
NM_001346440.1:c.1724C>A	NP_001333369.1:p.Thr575Lys
NM_000124.4:c.1724C>A MANE Select	NP_000115.1:p.Thr575Lys
NM_001346440.2:c.1724C>A	NP_001333369.1:p.Thr575Lys