Canonical Allele Identifier: CA376708216

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669407G>T (hg19) ; chr10:g.49461361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461361G>T , CM000672.2:g.49461361G>T	GRCh38
NC_000010.10:g.50669407G>T , CM000672.1:g.50669407G>T	GRCh37
NC_000010.9:g.50339413G>T	NCBI36
NG_009442.1:g.82741C>A , LRG_465:g.82741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3974C>A MANE Select	ENSP00000348089.5:p.Ala1325Glu
ENST00000679552.1:n.1045C>A
ENST00000679871.1:n.1120C>A
ENST00000679974.1:n.1023C>A
ENST00000681632.1:n.5377C>A
ENST00000681659.1:c.3815C>A	ENSP00000505631.1:p.Ala1272Glu
ENST00000355832.9:c.3974C>A	ENSP00000348089.5:p.Ala1325Glu
ENST00000465653.1:n.296C>A
ENST00000623073.3:c.*2270C>A	ENSP00000485650.1:n.*2270C>A
ENST00000623115.3:c.2084C>A	ENSP00000485321.1:p.Ala695Glu
ENST00000624341.3:c.1806C>A
NM_000124.3:c.3974C>A	NP_000115.1:p.Ala1325Glu
XR_945953.1:n.243-10204G>T
NM_001346440.1:c.3974C>A	NP_001333369.1:p.Ala1325Glu
NM_000124.4:c.3974C>A MANE Select	NP_000115.1:p.Ala1325Glu
NM_001346440.2:c.3974C>A	NP_001333369.1:p.Ala1325Glu