Canonical Allele Identifier: CA376754955
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2617550
ClinVar RCV Id: RCV003370423

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524664G>T , CM000672.2:g.49524664G>T GRCh38
NC_000010.10:g.50732710G>T , CM000672.1:g.50732710G>T GRCh37
NC_000010.9:g.50402716G>T NCBI36
NG_009442.1:g.19438C>A , LRG_465:g.19438C>A
NG_033155.1:g.4618C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.766C>A MANE Select ENSP00000348089.5:p.Gln256Lys
ENST00000447839.7:c.766C>A MANE Plus Clinical ENSP00000387966.2:p.Gln256Lys
ENST00000679596.1:c.*395C>A ENSP00000504862.1:n.*395C>A
ENST00000679811.1:n.849C>A
ENST00000680107.1:c.652+3753C>A ENSP00000505909.1:n.652+3753C>A
ENST00000680233.1:n.859C>A
ENST00000681632.1:n.844C>A
ENST00000681659.1:c.766C>A ENSP00000505631.1:p.Gln256Lys
ENST00000355832.9:c.766C>A ENSP00000348089.5:p.Gln256Lys
ENST00000447839.6:c.766C>A ENSP00000387966.2:p.Gln256Lys
ENST00000515869.1:c.766C>A ENSP00000423550.1:p.Gln256Lys
NM_000124.3:c.766C>A NP_000115.1:p.Gln256Lys
NM_001277058.1:c.766C>A NP_001263987.1:p.Gln256Lys
NM_001277059.1:c.766C>A NP_001263988.1:p.Gln256Lys
NM_001346440.1:c.766C>A NP_001333369.1:p.Gln256Lys
NM_000124.4:c.766C>A MANE Select NP_000115.1:p.Gln256Lys
NM_001277058.2:c.766C>A MANE Plus Clinical NP_001263987.1:p.Gln256Lys
NM_001277059.2:c.766C>A NP_001263988.1:p.Gln256Lys
NM_001346440.2:c.766C>A NP_001333369.1:p.Gln256Lys