Canonical Allele Identifier: CA469790445
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1134643
ClinVar RCV Id: RCV001469612
dbSNP Id: rs2132621374
MyVariant Identifiers: chr10:g.50732555T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524509T>G , CM000672.2:g.49524509T>G GRCh38
NC_000010.10:g.50732555T>G , CM000672.1:g.50732555T>G GRCh37
NC_000010.9:g.50402561T>G NCBI36
NG_009442.1:g.19593A>C , LRG_465:g.19593A>C
NG_033155.1:g.4773A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.921A>C MANE Select ENSP00000348089.5:p.Pro307=
ENST00000447839.7:c.921A>C MANE Plus Clinical ENSP00000387966.2:p.Pro307=
ENST00000679596.1:c.*550A>C ENSP00000504862.1:n.*550A>C
ENST00000679811.1:n.1004A>C
ENST00000680107.1:c.652+3908A>C ENSP00000505909.1:n.652+3908A>C
ENST00000680233.1:n.1014A>C
ENST00000681632.1:n.999A>C
ENST00000681659.1:c.921A>C ENSP00000505631.1:p.Pro307=
ENST00000355832.9:c.921A>C ENSP00000348089.5:p.Pro307=
ENST00000447839.6:c.921A>C ENSP00000387966.2:p.Pro307=
ENST00000515869.1:c.921A>C ENSP00000423550.1:p.Pro307=
NM_000124.3:c.921A>C NP_000115.1:p.Pro307=
NM_001277058.1:c.921A>C NP_001263987.1:p.Pro307=
NM_001277059.1:c.921A>C NP_001263988.1:p.Pro307=
NM_001346440.1:c.921A>C NP_001333369.1:p.Pro307=
NM_000124.4:c.921A>C MANE Select NP_000115.1:p.Pro307=
NM_001277058.2:c.921A>C MANE Plus Clinical NP_001263987.1:p.Pro307=
NM_001277059.2:c.921A>C NP_001263988.1:p.Pro307=
NM_001346440.2:c.921A>C NP_001333369.1:p.Pro307=