Canonical Allele Identifier: CA376708217

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461362-C-T
• MyVariant Identifiers: chr10:g.50669408C>T (hg19) ; chr10:g.49461362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461362C>T , CM000672.2:g.49461362C>T	GRCh38
NC_000010.10:g.50669408C>T , CM000672.1:g.50669408C>T	GRCh37
NC_000010.9:g.50339414C>T	NCBI36
NG_009442.1:g.82740G>A , LRG_465:g.82740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3973G>A MANE Select	ENSP00000348089.5:p.Ala1325Thr
ENST00000679552.1:n.1044G>A
ENST00000679871.1:n.1119G>A
ENST00000679974.1:n.1022G>A
ENST00000681632.1:n.5376G>A
ENST00000681659.1:c.3814G>A	ENSP00000505631.1:p.Ala1272Thr
ENST00000355832.9:c.3973G>A	ENSP00000348089.5:p.Ala1325Thr
ENST00000465653.1:n.295G>A
ENST00000623073.3:c.*2269G>A	ENSP00000485650.1:n.*2269G>A
ENST00000623115.3:c.2083G>A	ENSP00000485321.1:p.Ala695Thr
ENST00000624341.3:c.1805G>A
NM_000124.3:c.3973G>A	NP_000115.1:p.Ala1325Thr
XR_945953.1:n.243-10203C>T
NM_001346440.1:c.3973G>A	NP_001333369.1:p.Ala1325Thr
NM_000124.4:c.3973G>A MANE Select	NP_000115.1:p.Ala1325Thr
NM_001346440.2:c.3973G>A	NP_001333369.1:p.Ala1325Thr