Canonical Allele Identifier: CA376708404

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669507C>A (hg19) ; chr10:g.49461461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461461C>A , CM000672.2:g.49461461C>A	GRCh38
NC_000010.10:g.50669507C>A , CM000672.1:g.50669507C>A	GRCh37
NC_000010.9:g.50339513C>A	NCBI36
NG_009442.1:g.82641G>T , LRG_465:g.82641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3874G>T MANE Select	ENSP00000348089.5:p.Asp1292Tyr
ENST00000679552.1:n.945G>T
ENST00000679871.1:n.1020G>T
ENST00000679974.1:n.923G>T
ENST00000681632.1:n.5277G>T
ENST00000681659.1:c.3715G>T	ENSP00000505631.1:p.Asp1239Tyr
ENST00000355832.9:c.3874G>T	ENSP00000348089.5:p.Asp1292Tyr
ENST00000465653.1:n.196G>T
ENST00000623073.3:c.*2170G>T	ENSP00000485650.1:n.*2170G>T
ENST00000623115.3:c.1984G>T	ENSP00000485321.1:p.Asp662Tyr
ENST00000624341.3:c.1706G>T
NM_000124.3:c.3874G>T	NP_000115.1:p.Asp1292Tyr
XR_945953.1:n.243-10104C>A
NM_001346440.1:c.3874G>T	NP_001333369.1:p.Asp1292Tyr
NM_000124.4:c.3874G>T MANE Select	NP_000115.1:p.Asp1292Tyr
NM_001346440.2:c.3874G>T	NP_001333369.1:p.Asp1292Tyr