Canonical Allele Identifier: CA469788830

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2864875
• ClinVar RCV Id: RCV003697511
• MyVariant Identifiers: chr10:g.50678625C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470579C>G , CM000672.2:g.49470579C>G	GRCh38
NC_000010.10:g.50678625C>G , CM000672.1:g.50678625C>G	GRCh37
NC_000010.9:g.50348631C>G	NCBI36
NG_009442.1:g.73523G>C , LRG_465:g.73523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3381G>C MANE Select	ENSP00000348089.5:p.Gly1127=
ENST00000679552.1:n.452G>C
ENST00000679871.1:n.527G>C
ENST00000679974.1:n.430G>C
ENST00000681632.1:n.4784G>C
ENST00000681659.1:c.3222G>C	ENSP00000505631.1:p.Gly1074=
ENST00000355832.9:c.3381G>C	ENSP00000348089.5:p.Gly1127=
ENST00000623073.3:c.*1677G>C	ENSP00000485650.1:n.*1677G>C
ENST00000623115.3:c.1491G>C	ENSP00000485321.1:p.Gly497=
ENST00000624341.3:c.1213G>C
NM_000124.3:c.3381G>C	NP_000115.1:p.Gly1127=
XR_945953.1:n.243-986C>G
NM_001346440.1:c.3381G>C	NP_001333369.1:p.Gly1127=
NM_000124.4:c.3381G>C MANE Select	NP_000115.1:p.Gly1127=
NM_001346440.2:c.3381G>C	NP_001333369.1:p.Gly1127=