Canonical Allele Identifier: CA928219792
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1836899443
gnomAD v3: 10-49514816-A-T
gnomAD v4: 10-49514816-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49514816A>T , CM000672.2:g.49514816A>T GRCh38
NC_000010.10:g.50722862A>T , CM000672.1:g.50722862A>T GRCh37
NC_000010.9:g.50392868A>T NCBI36
NG_009442.1:g.29286T>A , LRG_465:g.29286T>A
NG_033155.1:g.14466T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1398-8804T>A MANE Select ENSP00000348089.5:n.1398-8804T>A
ENST00000679811.1:n.1481-8804T>A
ENST00000680107.1:c.*2283T>A ENSP00000505909.1:n.*2283T>A
ENST00000681632.1:n.1476-8804T>A
ENST00000681659.1:c.1398-8804T>A ENSP00000505631.1:n.1398-8804T>A
ENST00000355832.9:c.1398-8804T>A ENSP00000348089.5:n.1398-8804T>A
NM_000124.3:c.1398-8804T>A NP_000115.1:n.1398-8804T>A
NM_001346440.1:c.1398-8804T>A NP_001333369.1:n.1398-8804T>A
NM_000124.4:c.1398-8804T>A MANE Select NP_000115.1:n.1398-8804T>A
NM_001346440.2:c.1398-8804T>A NP_001333369.1:n.1398-8804T>A
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