Canonical Allele Identifier: CA376708238

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669419G>T (hg19) ; chr10:g.49461373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461373G>T , CM000672.2:g.49461373G>T	GRCh38
NC_000010.10:g.50669419G>T , CM000672.1:g.50669419G>T	GRCh37
NC_000010.9:g.50339425G>T	NCBI36
NG_009442.1:g.82729C>A , LRG_465:g.82729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3962C>A MANE Select	ENSP00000348089.5:p.Ser1321Tyr
ENST00000679552.1:n.1033C>A
ENST00000679871.1:n.1108C>A
ENST00000679974.1:n.1011C>A
ENST00000681632.1:n.5365C>A
ENST00000681659.1:c.3803C>A	ENSP00000505631.1:p.Ser1268Tyr
ENST00000355832.9:c.3962C>A	ENSP00000348089.5:p.Ser1321Tyr
ENST00000465653.1:n.284C>A
ENST00000623073.3:c.*2258C>A	ENSP00000485650.1:n.*2258C>A
ENST00000623115.3:c.2072C>A	ENSP00000485321.1:p.Ser691Tyr
ENST00000624341.3:c.1794C>A
NM_000124.3:c.3962C>A	NP_000115.1:p.Ser1321Tyr
XR_945953.1:n.243-10192G>T
NM_001346440.1:c.3962C>A	NP_001333369.1:p.Ser1321Tyr
NM_000124.4:c.3962C>A MANE Select	NP_000115.1:p.Ser1321Tyr
NM_001346440.2:c.3962C>A	NP_001333369.1:p.Ser1321Tyr