Canonical Allele Identifier: CA469790648

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732351G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524305G>A , CM000672.2:g.49524305G>A	GRCh38
NC_000010.10:g.50732351G>A , CM000672.1:g.50732351G>A	GRCh37
NC_000010.9:g.50402357G>A	NCBI36
NG_009442.1:g.19797C>T , LRG_465:g.19797C>T
NG_033155.1:g.4977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1125C>T MANE Select	ENSP00000348089.5:p.Phe375=
ENST00000447839.7:c.1125C>T MANE Plus Clinical	ENSP00000387966.2:p.Phe375=
ENST00000679596.1:c.*754C>T	ENSP00000504862.1:n.*754C>T
ENST00000679811.1:n.1208C>T
ENST00000680107.1:c.652+4112C>T	ENSP00000505909.1:n.652+4112C>T
ENST00000680233.1:n.1218C>T
ENST00000681632.1:n.1203C>T
ENST00000681659.1:c.1125C>T	ENSP00000505631.1:p.Phe375=
ENST00000355832.9:c.1125C>T	ENSP00000348089.5:p.Phe375=
ENST00000447839.6:c.1125C>T	ENSP00000387966.2:p.Phe375=
ENST00000515869.1:c.1125C>T	ENSP00000423550.1:p.Phe375=
NM_000124.3:c.1125C>T	NP_000115.1:p.Phe375=
NM_001277058.1:c.1125C>T	NP_001263987.1:p.Phe375=
NM_001277059.1:c.1125C>T	NP_001263988.1:p.Phe375=
NM_001346440.1:c.1125C>T	NP_001333369.1:p.Phe375=
NM_000124.4:c.1125C>T MANE Select	NP_000115.1:p.Phe375=
NM_001277058.2:c.1125C>T MANE Plus Clinical	NP_001263987.1:p.Phe375=
NM_001277059.2:c.1125C>T	NP_001263988.1:p.Phe375=
NM_001346440.2:c.1125C>T	NP_001333369.1:p.Phe375=