Canonical Allele Identifier: CA376728875

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708645T>G (hg19) ; chr10:g.49500599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500599T>G , CM000672.2:g.49500599T>G	GRCh38
NC_000010.10:g.50708645T>G , CM000672.1:g.50708645T>G	GRCh37
NC_000010.9:g.50378651T>G	NCBI36
NG_009442.1:g.43503A>C , LRG_465:g.43503A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1624A>C MANE Select	ENSP00000348089.5:p.Ile542Leu
ENST00000681632.1:n.1702A>C
ENST00000681659.1:c.1526+5285A>C	ENSP00000505631.1:n.1526+5285A>C
ENST00000355832.9:c.1624A>C	ENSP00000348089.5:p.Ile542Leu
ENST00000475116.1:n.214A>C
ENST00000623073.3:c.25A>C	ENSP00000485650.1:p.Ile9Leu
ENST00000623115.3:c.-131A>C	ENSP00000485321.1:n.-131A>C
ENST00000623318.1:c.25A>C	ENSP00000485423.1:p.Ile9Leu
NM_000124.3:c.1624A>C	NP_000115.1:p.Ile542Leu
NM_001346440.1:c.1624A>C	NP_001333369.1:p.Ile542Leu
NM_000124.4:c.1624A>C MANE Select	NP_000115.1:p.Ile542Leu
NM_001346440.2:c.1624A>C	NP_001333369.1:p.Ile542Leu