Canonical Allele Identifier: CA2609135069
Gene: ERCC6 HGNC NCBI

Linked Data

gnomAD v4: 10-49472489-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49472489G>T , CM000672.2:g.49472489G>T GRCh38
NC_000010.10:g.50680535G>T , CM000672.1:g.50680535G>T GRCh37
NC_000010.9:g.50350541G>T NCBI36
NG_009442.1:g.71613C>A , LRG_465:g.71613C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2830-19C>A MANE Select ENSP00000348089.5:n.2830-19C>A
ENST00000681632.1:n.4214C>A
ENST00000681659.1:c.2671-19C>A ENSP00000505631.1:n.2671-19C>A
ENST00000355832.9:c.2830-19C>A ENSP00000348089.5:n.2830-19C>A
ENST00000623073.3:c.*1126-19C>A ENSP00000485650.1:n.*1126-19C>A
ENST00000623115.3:c.940-19C>A ENSP00000485321.1:n.940-19C>A
ENST00000624341.3:c.662-19C>A
NM_000124.3:c.2830-19C>A NP_000115.1:n.2830-19C>A
XR_945953.1:n.690-214G>T
NM_001346440.1:c.2830-19C>A NP_001333369.1:n.2830-19C>A
NM_000124.4:c.2830-19C>A MANE Select NP_000115.1:n.2830-19C>A
NM_001346440.2:c.2830-19C>A NP_001333369.1:n.2830-19C>A
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