Canonical Allele Identifier: CA376724279

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49482760-G-T
• MyVariant Identifiers: chr10:g.50690806G>T (hg19) ; chr10:g.49482760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482760G>T , CM000672.2:g.49482760G>T	GRCh38
NC_000010.10:g.50690806G>T , CM000672.1:g.50690806G>T	GRCh37
NC_000010.9:g.50360812G>T	NCBI36
NG_009442.1:g.61342C>A , LRG_465:g.61342C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2096C>A MANE Select	ENSP00000348089.5:p.Thr699Lys
ENST00000681632.1:n.2174C>A
ENST00000681659.1:c.1937C>A	ENSP00000505631.1:p.Thr646Lys
ENST00000355832.9:c.2096C>A	ENSP00000348089.5:p.Thr699Lys
ENST00000623073.3:c.*488C>A	ENSP00000485650.1:n.*488C>A
ENST00000623115.3:c.206C>A	ENSP00000485321.1:p.Thr69Lys
NM_000124.3:c.2096C>A	NP_000115.1:p.Thr699Lys
NM_001346440.1:c.2096C>A	NP_001333369.1:p.Thr699Lys
NM_000124.4:c.2096C>A MANE Select	NP_000115.1:p.Thr699Lys
NM_001346440.2:c.2096C>A	NP_001333369.1:p.Thr699Lys