Canonical Allele Identifier: CA376708304

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669452C>T (hg19) ; chr10:g.49461406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461406C>T , CM000672.2:g.49461406C>T	GRCh38
NC_000010.10:g.50669452C>T , CM000672.1:g.50669452C>T	GRCh37
NC_000010.9:g.50339458C>T	NCBI36
NG_009442.1:g.82696G>A , LRG_465:g.82696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3929G>A MANE Select	ENSP00000348089.5:p.Gly1310Asp
ENST00000679552.1:n.1000G>A
ENST00000679871.1:n.1075G>A
ENST00000679974.1:n.978G>A
ENST00000681632.1:n.5332G>A
ENST00000681659.1:c.3770G>A	ENSP00000505631.1:p.Gly1257Asp
ENST00000355832.9:c.3929G>A	ENSP00000348089.5:p.Gly1310Asp
ENST00000465653.1:n.251G>A
ENST00000623073.3:c.*2225G>A	ENSP00000485650.1:n.*2225G>A
ENST00000623115.3:c.2039G>A	ENSP00000485321.1:p.Gly680Asp
ENST00000624341.3:c.1761G>A
NM_000124.3:c.3929G>A	NP_000115.1:p.Gly1310Asp
XR_945953.1:n.243-10159C>T
NM_001346440.1:c.3929G>A	NP_001333369.1:p.Gly1310Asp
NM_000124.4:c.3929G>A MANE Select	NP_000115.1:p.Gly1310Asp
NM_001346440.2:c.3929G>A	NP_001333369.1:p.Gly1310Asp