Canonical Allele Identifier: CA469791012

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1626830
• ClinVar RCV Id: RCV002110867
• dbSNP Id: rs1837261383
• gnomAD v4: 10-49524488-T-C
• MyVariant Identifiers: chr10:g.50732534T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524488T>C , CM000672.2:g.49524488T>C	GRCh38
NC_000010.10:g.50732534T>C , CM000672.1:g.50732534T>C	GRCh37
NC_000010.9:g.50402540T>C	NCBI36
NG_009442.1:g.19614A>G , LRG_465:g.19614A>G
NG_033155.1:g.4794A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.942A>G MANE Select	ENSP00000348089.5:p.Pro314=
ENST00000447839.7:c.942A>G MANE Plus Clinical	ENSP00000387966.2:p.Pro314=
ENST00000679596.1:c.*571A>G	ENSP00000504862.1:n.*571A>G
ENST00000679811.1:n.1025A>G
ENST00000680107.1:c.652+3929A>G	ENSP00000505909.1:n.652+3929A>G
ENST00000680233.1:n.1035A>G
ENST00000681632.1:n.1020A>G
ENST00000681659.1:c.942A>G	ENSP00000505631.1:p.Pro314=
ENST00000355832.9:c.942A>G	ENSP00000348089.5:p.Pro314=
ENST00000447839.6:c.942A>G	ENSP00000387966.2:p.Pro314=
ENST00000515869.1:c.942A>G	ENSP00000423550.1:p.Pro314=
NM_000124.3:c.942A>G	NP_000115.1:p.Pro314=
NM_001277058.1:c.942A>G	NP_001263987.1:p.Pro314=
NM_001277059.1:c.942A>G	NP_001263988.1:p.Pro314=
NM_001346440.1:c.942A>G	NP_001333369.1:p.Pro314=
NM_000124.4:c.942A>G MANE Select	NP_000115.1:p.Pro314=
NM_001277058.2:c.942A>G MANE Plus Clinical	NP_001263987.1:p.Pro314=
NM_001277059.2:c.942A>G	NP_001263988.1:p.Pro314=
NM_001346440.2:c.942A>G	NP_001333369.1:p.Pro314=