Canonical Allele Identifier: CA469604731

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708730T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500684T>C , CM000672.2:g.49500684T>C	GRCh38
NC_000010.10:g.50708730T>C , CM000672.1:g.50708730T>C	GRCh37
NC_000010.9:g.50378736T>C	NCBI36
NG_009442.1:g.43418A>G , LRG_465:g.43418A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1539A>G MANE Select	ENSP00000348089.5:p.Thr513=
ENST00000681632.1:n.1617A>G
ENST00000681659.1:c.1526+5200A>G	ENSP00000505631.1:n.1526+5200A>G
ENST00000355832.9:c.1539A>G	ENSP00000348089.5:p.Thr513=
ENST00000475116.1:n.129A>G
ENST00000623073.3:c.-61A>G	ENSP00000485650.1:n.-61A>G
ENST00000623115.3:c.-216A>G	ENSP00000485321.1:n.-216A>G
ENST00000623318.1:c.-61A>G	ENSP00000485423.1:n.-61A>G
ENST00000623788.1:n.538A>G
NM_000124.3:c.1539A>G	NP_000115.1:p.Thr513=
NM_001346440.1:c.1539A>G	NP_001333369.1:p.Thr513=
NM_000124.4:c.1539A>G MANE Select	NP_000115.1:p.Thr513=
NM_001346440.2:c.1539A>G	NP_001333369.1:p.Thr513=