Canonical Allele Identifier: CA469790766

Linked Data

MyVariant Identifiers: chr10:g.50732266G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524220G>A , CM000672.2:g.49524220G>A GRCh38
NC_000010.10:g.50732266G>A , CM000672.1:g.50732266G>A GRCh37
NC_000010.9:g.50402272G>A NCBI36
NG_009442.1:g.19882C>T , LRG_465:g.19882C>T
NG_033155.1:g.5062C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1210C>T (ERCC6) MANE Select ENSP00000348089.5:p.Leu404=
ENST00000447839.7:c.1210C>T (ERCC6) MANE Plus Clinical ENSP00000387966.2:p.Leu404=
ENST00000679596.1:c.*839C>T (ERCC6) ENSP00000504862.1:n.*839C>T
ENST00000679811.1:n.1293C>T (ERCC6)
ENST00000680107.1:c.652+4197C>T (ERCC6) ENSP00000505909.1:n.652+4197C>T
ENST00000680233.1:n.1303C>T (ERCC6)
ENST00000681632.1:n.1288C>T (ERCC6)
ENST00000681659.1:c.1210C>T (ERCC6) ENSP00000505631.1:p.Leu404=
ENST00000355832.9:c.1210C>T (ERCC6) ENSP00000348089.5:p.Leu404=
ENST00000374127.3:c.-195C>T ENSP00000363242.3:n.-195C>T
ENST00000447839.6:c.1210C>T ENSP00000387966.2:p.Leu404=
ENST00000515869.1:c.1210C>T ENSP00000423550.1:p.Leu404=
NM_000124.3:c.1210C>T (ERCC6) NP_000115.1:p.Leu404=
NM_001277058.1:c.1210C>T NP_001263987.1:p.Leu404=
NM_001277059.1:c.1210C>T NP_001263988.1:p.Leu404=
NM_170753.3:c.-195C>T (PGBD3) NP_736609.2:n.-195C>T
NM_001346440.1:c.1210C>T (ERCC6) NP_001333369.1:p.Leu404=
NM_000124.4:c.1210C>T (ERCC6) MANE Select NP_000115.1:p.Leu404=
NM_001277058.2:c.1210C>T (ERCC6) MANE Plus Clinical NP_001263987.1:p.Leu404=
NM_001277059.2:c.1210C>T (ERCC6) NP_001263988.1:p.Leu404=
NM_001346440.2:c.1210C>T (ERCC6) NP_001333369.1:p.Leu404=