Canonical Allele Identifier: CA376728845

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708641A>C (hg19) ; chr10:g.49500595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500595A>C , CM000672.2:g.49500595A>C	GRCh38
NC_000010.10:g.50708641A>C , CM000672.1:g.50708641A>C	GRCh37
NC_000010.9:g.50378647A>C	NCBI36
NG_009442.1:g.43507T>G , LRG_465:g.43507T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1628T>G MANE Select	ENSP00000348089.5:p.Ile543Ser
ENST00000681632.1:n.1706T>G
ENST00000681659.1:c.1526+5289T>G	ENSP00000505631.1:n.1526+5289T>G
ENST00000355832.9:c.1628T>G	ENSP00000348089.5:p.Ile543Ser
ENST00000475116.1:n.218T>G
ENST00000623073.3:c.29T>G	ENSP00000485650.1:p.Ile10Ser
ENST00000623115.3:c.-127T>G	ENSP00000485321.1:n.-127T>G
ENST00000623318.1:c.29T>G	ENSP00000485423.1:p.Ile10Ser
NM_000124.3:c.1628T>G	NP_000115.1:p.Ile543Ser
NM_001346440.1:c.1628T>G	NP_001333369.1:p.Ile543Ser
NM_000124.4:c.1628T>G MANE Select	NP_000115.1:p.Ile543Ser
NM_001346440.2:c.1628T>G	NP_001333369.1:p.Ile543Ser