Canonical Allele Identifier: CA469600433

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461552-G-T
• MyVariant Identifiers: chr10:g.50669598G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461552G>T , CM000672.2:g.49461552G>T	GRCh38
NC_000010.10:g.50669598G>T , CM000672.1:g.50669598G>T	GRCh37
NC_000010.9:g.50339604G>T	NCBI36
NG_009442.1:g.82550C>A , LRG_465:g.82550C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3783C>A MANE Select	ENSP00000348089.5:p.Gly1261=
ENST00000679552.1:n.854C>A
ENST00000679871.1:n.929C>A
ENST00000679974.1:n.832C>A
ENST00000681632.1:n.5186C>A
ENST00000681659.1:c.3624C>A	ENSP00000505631.1:p.Gly1208=
ENST00000355832.9:c.3783C>A	ENSP00000348089.5:p.Gly1261=
ENST00000465653.1:n.105C>A
ENST00000623073.3:c.*2079C>A	ENSP00000485650.1:n.*2079C>A
ENST00000623115.3:c.1893C>A	ENSP00000485321.1:p.Gly631=
ENST00000624341.3:c.1615C>A
NM_000124.3:c.3783C>A	NP_000115.1:p.Gly1261=
XR_945953.1:n.243-10013G>T
NM_001346440.1:c.3783C>A	NP_001333369.1:p.Gly1261=
NM_000124.4:c.3783C>A MANE Select	NP_000115.1:p.Gly1261=
NM_001346440.2:c.3783C>A	NP_001333369.1:p.Gly1261=