Canonical Allele Identifier: CA376708241

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669420A>T (hg19) ; chr10:g.49461374A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461374A>T , CM000672.2:g.49461374A>T	GRCh38
NC_000010.10:g.50669420A>T , CM000672.1:g.50669420A>T	GRCh37
NC_000010.9:g.50339426A>T	NCBI36
NG_009442.1:g.82728T>A , LRG_465:g.82728T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3961T>A MANE Select	ENSP00000348089.5:p.Ser1321Thr
ENST00000679552.1:n.1032T>A
ENST00000679871.1:n.1107T>A
ENST00000679974.1:n.1010T>A
ENST00000681632.1:n.5364T>A
ENST00000681659.1:c.3802T>A	ENSP00000505631.1:p.Ser1268Thr
ENST00000355832.9:c.3961T>A	ENSP00000348089.5:p.Ser1321Thr
ENST00000465653.1:n.283T>A
ENST00000623073.3:c.*2257T>A	ENSP00000485650.1:n.*2257T>A
ENST00000623115.3:c.2071T>A	ENSP00000485321.1:p.Ser691Thr
ENST00000624341.3:c.1793T>A
NM_000124.3:c.3961T>A	NP_000115.1:p.Ser1321Thr
XR_945953.1:n.243-10191A>T
NM_001346440.1:c.3961T>A	NP_001333369.1:p.Ser1321Thr
NM_000124.4:c.3961T>A MANE Select	NP_000115.1:p.Ser1321Thr
NM_001346440.2:c.3961T>A	NP_001333369.1:p.Ser1321Thr