Canonical Allele Identifier: CA2609139661

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49530702-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49530702A>C , CM000672.2:g.49530702A>C	GRCh38
NC_000010.10:g.50738748A>C , CM000672.1:g.50738748A>C	GRCh37
NC_000010.9:g.50408754A>C	NCBI36
NG_009442.1:g.13400T>G , LRG_465:g.13400T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.543+18T>G MANE Select	ENSP00000348089.5:n.543+18T>G
ENST00000447839.7:c.543+18T>G MANE Plus Clinical	ENSP00000387966.2:n.543+18T>G
ENST00000679596.1:c.*172+1841T>G	ENSP00000504862.1:n.*172+1841T>G
ENST00000679811.1:n.626+18T>G
ENST00000680107.1:c.543+18T>G	ENSP00000505909.1:n.543+18T>G
ENST00000680233.1:n.636+18T>G
ENST00000681632.1:n.621+18T>G
ENST00000681659.1:c.543+18T>G	ENSP00000505631.1:n.543+18T>G
ENST00000355832.9:c.543+18T>G	ENSP00000348089.5:n.543+18T>G
ENST00000447839.6:c.543+18T>G	ENSP00000387966.2:n.543+18T>G
ENST00000479652.1:n.18+18T>G
ENST00000515869.1:c.543+18T>G	ENSP00000423550.1:n.543+18T>G
NM_000124.3:c.543+18T>G	NP_000115.1:n.543+18T>G
NM_001277058.1:c.543+18T>G	NP_001263987.1:n.543+18T>G
NM_001277059.1:c.543+18T>G	NP_001263988.1:n.543+18T>G
NM_001346440.1:c.543+18T>G	NP_001333369.1:n.543+18T>G
NM_000124.4:c.543+18T>G MANE Select	NP_000115.1:n.543+18T>G
NM_001277058.2:c.543+18T>G MANE Plus Clinical	NP_001263987.1:n.543+18T>G
NM_001277059.2:c.543+18T>G	NP_001263988.1:n.543+18T>G
NM_001346440.2:c.543+18T>G	NP_001333369.1:n.543+18T>G