Canonical Allele Identifier: CA376728741

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708624G>C (hg19) ; chr10:g.49500578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500578G>C , CM000672.2:g.49500578G>C	GRCh38
NC_000010.10:g.50708624G>C , CM000672.1:g.50708624G>C	GRCh37
NC_000010.9:g.50378630G>C	NCBI36
NG_009442.1:g.43524C>G , LRG_465:g.43524C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1645C>G MANE Select	ENSP00000348089.5:p.Leu549Val
ENST00000681632.1:n.1723C>G
ENST00000681659.1:c.1526+5306C>G	ENSP00000505631.1:n.1526+5306C>G
ENST00000355832.9:c.1645C>G	ENSP00000348089.5:p.Leu549Val
ENST00000475116.1:n.235C>G
ENST00000623073.3:c.46C>G	ENSP00000485650.1:p.Leu16Val
ENST00000623115.3:c.-110C>G	ENSP00000485321.1:n.-110C>G
ENST00000623318.1:c.46C>G	ENSP00000485423.1:p.Leu16Val
NM_000124.3:c.1645C>G	NP_000115.1:p.Leu549Val
NM_001346440.1:c.1645C>G	NP_001333369.1:p.Leu549Val
NM_000124.4:c.1645C>G MANE Select	NP_000115.1:p.Leu549Val
NM_001346440.2:c.1645C>G	NP_001333369.1:p.Leu549Val