Canonical Allele Identifier: CA376710247

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49530734-G-C
• MyVariant Identifiers: chr10:g.50738780G>C (hg19) ; chr10:g.49530734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49530734G>C , CM000672.2:g.49530734G>C	GRCh38
NC_000010.10:g.50738780G>C , CM000672.1:g.50738780G>C	GRCh37
NC_000010.9:g.50408786G>C	NCBI36
NG_009442.1:g.13368C>G , LRG_465:g.13368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.529C>G MANE Select	ENSP00000348089.5:p.Gln177Glu
ENST00000447839.7:c.529C>G MANE Plus Clinical	ENSP00000387966.2:p.Gln177Glu
ENST00000679596.1:c.*172+1809C>G	ENSP00000504862.1:n.*172+1809C>G
ENST00000679811.1:n.612C>G
ENST00000680107.1:c.529C>G	ENSP00000505909.1:p.Gln177Glu
ENST00000680233.1:n.622C>G
ENST00000681632.1:n.607C>G
ENST00000681659.1:c.529C>G	ENSP00000505631.1:p.Gln177Glu
ENST00000355832.9:c.529C>G	ENSP00000348089.5:p.Gln177Glu
ENST00000447839.6:c.529C>G	ENSP00000387966.2:p.Gln177Glu
ENST00000462247.1:c.529C>G	ENSP00000422827.1:p.Gln177Glu
ENST00000479652.1:n.4C>G
ENST00000515869.1:c.529C>G	ENSP00000423550.1:p.Gln177Glu
NM_000124.3:c.529C>G	NP_000115.1:p.Gln177Glu
NM_001277058.1:c.529C>G	NP_001263987.1:p.Gln177Glu
NM_001277059.1:c.529C>G	NP_001263988.1:p.Gln177Glu
NM_001346440.1:c.529C>G	NP_001333369.1:p.Gln177Glu
NM_000124.4:c.529C>G MANE Select	NP_000115.1:p.Gln177Glu
NM_001277058.2:c.529C>G MANE Plus Clinical	NP_001263987.1:p.Gln177Glu
NM_001277059.2:c.529C>G	NP_001263988.1:p.Gln177Glu
NM_001346440.2:c.529C>G	NP_001333369.1:p.Gln177Glu