Canonical Allele Identifier: CA376752593

Gene: ERCC6 PGBD3

Linked Data

• dbSNP Id: rs1353767509
• gnomAD v2: 10-50732299-C-T
• gnomAD v4: 10-49524253-C-T
• MyVariant Identifiers: chr10:g.50732299C>T (hg19) ; chr10:g.49524253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524253C>T , CM000672.2:g.49524253C>T	GRCh38
NC_000010.10:g.50732299C>T , CM000672.1:g.50732299C>T	GRCh37
NC_000010.9:g.50402305C>T	NCBI36
NG_009442.1:g.19849G>A , LRG_465:g.19849G>A
NG_033155.1:g.5029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1177G>A (ERCC6) MANE Select	ENSP00000348089.5:p.Ala393Thr
ENST00000447839.7:c.1177G>A (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Ala393Thr
ENST00000679596.1:c.*806G>A (ERCC6)	ENSP00000504862.1:n.*806G>A
ENST00000679811.1:n.1260G>A (ERCC6)
ENST00000680107.1:c.652+4164G>A (ERCC6)	ENSP00000505909.1:n.652+4164G>A
ENST00000680233.1:n.1270G>A (ERCC6)
ENST00000681632.1:n.1255G>A (ERCC6)
ENST00000681659.1:c.1177G>A (ERCC6)	ENSP00000505631.1:p.Ala393Thr
ENST00000355832.9:c.1177G>A (ERCC6)	ENSP00000348089.5:p.Ala393Thr
ENST00000447839.6:c.1177G>A	ENSP00000387966.2:p.Ala393Thr
ENST00000515869.1:c.1177G>A	ENSP00000423550.1:p.Ala393Thr
NM_000124.3:c.1177G>A (ERCC6)	NP_000115.1:p.Ala393Thr
NM_001277058.1:c.1177G>A	NP_001263987.1:p.Ala393Thr
NM_001277059.1:c.1177G>A	NP_001263988.1:p.Ala393Thr
NM_170753.3:c.-228G>A (PGBD3)	NP_736609.2:n.-228G>A
NM_001346440.1:c.1177G>A (ERCC6)	NP_001333369.1:p.Ala393Thr
NM_000124.4:c.1177G>A (ERCC6) MANE Select	NP_000115.1:p.Ala393Thr
NM_001277058.2:c.1177G>A (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Ala393Thr
NM_001277059.2:c.1177G>A (ERCC6)	NP_001263988.1:p.Ala393Thr
NM_001346440.2:c.1177G>A (ERCC6)	NP_001333369.1:p.Ala393Thr