Canonical Allele Identifier: CA376714623

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678545G>T (hg19) ; chr10:g.49470499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470499G>T , CM000672.2:g.49470499G>T	GRCh38
NC_000010.10:g.50678545G>T , CM000672.1:g.50678545G>T	GRCh37
NC_000010.9:g.50348551G>T	NCBI36
NG_009442.1:g.73603C>A , LRG_465:g.73603C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3461C>A MANE Select	ENSP00000348089.5:p.Ser1154Tyr
ENST00000679552.1:n.532C>A
ENST00000679871.1:n.607C>A
ENST00000679974.1:n.510C>A
ENST00000681632.1:n.4864C>A
ENST00000681659.1:c.3302C>A	ENSP00000505631.1:p.Ser1101Tyr
ENST00000355832.9:c.3461C>A	ENSP00000348089.5:p.Ser1154Tyr
ENST00000623073.3:c.*1757C>A	ENSP00000485650.1:n.*1757C>A
ENST00000623115.3:c.1571C>A	ENSP00000485321.1:p.Ser524Tyr
ENST00000624341.3:c.1293C>A
NM_000124.3:c.3461C>A	NP_000115.1:p.Ser1154Tyr
XR_945953.1:n.243-1066G>T
NM_001346440.1:c.3461C>A	NP_001333369.1:p.Ser1154Tyr
NM_000124.4:c.3461C>A MANE Select	NP_000115.1:p.Ser1154Tyr
NM_001346440.2:c.3461C>A	NP_001333369.1:p.Ser1154Tyr