Canonical Allele Identifier: CA469600357

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461474-G-A
• MyVariant Identifiers: chr10:g.50669520G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461474G>A , CM000672.2:g.49461474G>A	GRCh38
NC_000010.10:g.50669520G>A , CM000672.1:g.50669520G>A	GRCh37
NC_000010.9:g.50339526G>A	NCBI36
NG_009442.1:g.82628C>T , LRG_465:g.82628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3861C>T MANE Select	ENSP00000348089.5:p.Asn1287=
ENST00000679552.1:n.932C>T
ENST00000679871.1:n.1007C>T
ENST00000679974.1:n.910C>T
ENST00000681632.1:n.5264C>T
ENST00000681659.1:c.3702C>T	ENSP00000505631.1:p.Asn1234=
ENST00000355832.9:c.3861C>T	ENSP00000348089.5:p.Asn1287=
ENST00000465653.1:n.183C>T
ENST00000623073.3:c.*2157C>T	ENSP00000485650.1:n.*2157C>T
ENST00000623115.3:c.1971C>T	ENSP00000485321.1:p.Asn657=
ENST00000624341.3:c.1693C>T
NM_000124.3:c.3861C>T	NP_000115.1:p.Asn1287=
XR_945953.1:n.243-10091G>A
NM_001346440.1:c.3861C>T	NP_001333369.1:p.Asn1287=
NM_000124.4:c.3861C>T MANE Select	NP_000115.1:p.Asn1287=
NM_001346440.2:c.3861C>T	NP_001333369.1:p.Asn1287=