Canonical Allele Identifier: CA469604728

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49500681-A-T
• MyVariant Identifiers: chr10:g.50708727A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500681A>T , CM000672.2:g.49500681A>T	GRCh38
NC_000010.10:g.50708727A>T , CM000672.1:g.50708727A>T	GRCh37
NC_000010.9:g.50378733A>T	NCBI36
NG_009442.1:g.43421T>A , LRG_465:g.43421T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1542T>A MANE Select	ENSP00000348089.5:p.Gly514=
ENST00000681632.1:n.1620T>A
ENST00000681659.1:c.1526+5203T>A	ENSP00000505631.1:n.1526+5203T>A
ENST00000355832.9:c.1542T>A	ENSP00000348089.5:p.Gly514=
ENST00000475116.1:n.132T>A
ENST00000623073.3:c.-58T>A	ENSP00000485650.1:n.-58T>A
ENST00000623115.3:c.-213T>A	ENSP00000485321.1:n.-213T>A
ENST00000623318.1:c.-58T>A	ENSP00000485423.1:n.-58T>A
ENST00000623788.1:n.541T>A
NM_000124.3:c.1542T>A	NP_000115.1:p.Gly514=
NM_001346440.1:c.1542T>A	NP_001333369.1:p.Gly514=
NM_000124.4:c.1542T>A MANE Select	NP_000115.1:p.Gly514=
NM_001346440.2:c.1542T>A	NP_001333369.1:p.Gly514=