Canonical Allele Identifier: CA376729213

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49500685-G-A
• MyVariant Identifiers: chr10:g.50708731G>A (hg19) ; chr10:g.49500685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500685G>A , CM000672.2:g.49500685G>A	GRCh38
NC_000010.10:g.50708731G>A , CM000672.1:g.50708731G>A	GRCh37
NC_000010.9:g.50378737G>A	NCBI36
NG_009442.1:g.43417C>T , LRG_465:g.43417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1538C>T MANE Select	ENSP00000348089.5:p.Thr513Ile
ENST00000681632.1:n.1616C>T
ENST00000681659.1:c.1526+5199C>T	ENSP00000505631.1:n.1526+5199C>T
ENST00000355832.9:c.1538C>T	ENSP00000348089.5:p.Thr513Ile
ENST00000475116.1:n.128C>T
ENST00000623073.3:c.-62C>T	ENSP00000485650.1:n.-62C>T
ENST00000623115.3:c.-217C>T	ENSP00000485321.1:n.-217C>T
ENST00000623318.1:c.-62C>T	ENSP00000485423.1:n.-62C>T
ENST00000623788.1:n.537C>T
NM_000124.3:c.1538C>T	NP_000115.1:p.Thr513Ile
NM_001346440.1:c.1538C>T	NP_001333369.1:p.Thr513Ile
NM_000124.4:c.1538C>T MANE Select	NP_000115.1:p.Thr513Ile
NM_001346440.2:c.1538C>T	NP_001333369.1:p.Thr513Ile