Canonical Allele Identifier: CA469789007

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2853646
• ClinVar RCV Id: RCV003696115
• MyVariant Identifiers: chr10:g.50678733C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470687C>T , CM000672.2:g.49470687C>T	GRCh38
NC_000010.10:g.50678733C>T , CM000672.1:g.50678733C>T	GRCh37
NC_000010.9:g.50348739C>T	NCBI36
NG_009442.1:g.73415G>A , LRG_465:g.73415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3273G>A MANE Select	ENSP00000348089.5:p.Leu1091=
ENST00000679552.1:n.344G>A
ENST00000679871.1:n.419G>A
ENST00000679974.1:n.322G>A
ENST00000681632.1:n.4676G>A
ENST00000681659.1:c.3114G>A	ENSP00000505631.1:p.Leu1038=
ENST00000355832.9:c.3273G>A	ENSP00000348089.5:p.Leu1091=
ENST00000623073.3:c.*1569G>A	ENSP00000485650.1:n.*1569G>A
ENST00000623115.3:c.1383G>A	ENSP00000485321.1:p.Leu461=
ENST00000624341.3:c.1105G>A
NM_000124.3:c.3273G>A	NP_000115.1:p.Leu1091=
XR_945953.1:n.243-878C>T
NM_001346440.1:c.3273G>A	NP_001333369.1:p.Leu1091=
NM_000124.4:c.3273G>A MANE Select	NP_000115.1:p.Leu1091=
NM_001346440.2:c.3273G>A	NP_001333369.1:p.Leu1091=