Canonical Allele Identifier: CA376752331

Gene: ERCC6 PGBD3

Linked Data

• gnomAD v4: 10-49524184-T-A
• MyVariant Identifiers: chr10:g.50732230T>A (hg19) ; chr10:g.49524184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524184T>A , CM000672.2:g.49524184T>A	GRCh38
NC_000010.10:g.50732230T>A , CM000672.1:g.50732230T>A	GRCh37
NC_000010.9:g.50402236T>A	NCBI36
NG_009442.1:g.19918A>T , LRG_465:g.19918A>T
NG_033155.1:g.5098A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1246A>T (ERCC6) MANE Select	ENSP00000348089.5:p.Lys416Ter
ENST00000447839.7:c.1246A>T (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Lys416Ter
ENST00000679596.1:c.*875A>T (ERCC6)	ENSP00000504862.1:n.*875A>T
ENST00000679811.1:n.1329A>T (ERCC6)
ENST00000680107.1:c.652+4233A>T (ERCC6)	ENSP00000505909.1:n.652+4233A>T
ENST00000680233.1:n.1339A>T (ERCC6)
ENST00000681632.1:n.1324A>T (ERCC6)
ENST00000681659.1:c.1246A>T (ERCC6)	ENSP00000505631.1:p.Lys416Ter
ENST00000355832.9:c.1246A>T (ERCC6)	ENSP00000348089.5:p.Lys416Ter
ENST00000374127.3:c.-159A>T	ENSP00000363242.3:n.-159A>T
ENST00000447839.6:c.1246A>T	ENSP00000387966.2:p.Lys416Ter
ENST00000515869.1:c.1246A>T	ENSP00000423550.1:p.Lys416Ter
NM_000124.3:c.1246A>T (ERCC6)	NP_000115.1:p.Lys416Ter
NM_001277058.1:c.1246A>T	NP_001263987.1:p.Lys416Ter
NM_001277059.1:c.1246A>T	NP_001263988.1:p.Lys416Ter
NM_170753.3:c.-159A>T (PGBD3)	NP_736609.2:n.-159A>T
NM_001346440.1:c.1246A>T (ERCC6)	NP_001333369.1:p.Lys416Ter
NM_000124.4:c.1246A>T (ERCC6) MANE Select	NP_000115.1:p.Lys416Ter
NM_001277058.2:c.1246A>T (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Lys416Ter
NM_001277059.2:c.1246A>T (ERCC6)	NP_001263988.1:p.Lys416Ter
NM_001346440.2:c.1246A>T (ERCC6)	NP_001333369.1:p.Lys416Ter