Canonical Allele Identifier: CA1908745549
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461568A= , CM000672.2:g.49461568A= GRCh38
NC_000010.10:g.50669614A= , CM000672.1:g.50669614A= GRCh37
NC_000010.9:g.50339620A= NCBI36
NG_009442.1:g.82534T= , LRG_465:g.82534T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3779-12T= MANE Select ENSP00000348089.5:n.3779-12T=
ENST00000679552.1:n.850-12T=
ENST00000679871.1:n.925-12T=
ENST00000679974.1:n.828-12T=
ENST00000681632.1:n.5182-12T=
ENST00000681659.1:c.3620-12T= ENSP00000505631.1:n.3620-12T=
ENST00000355832.9:c.3779-12T= ENSP00000348089.5:n.3779-12T=
ENST00000465653.1:n.101-12T=
ENST00000623073.3:c.*2075-12T= ENSP00000485650.1:n.*2075-12T=
ENST00000623115.3:c.1889-12T= ENSP00000485321.1:n.1889-12T=
ENST00000624341.3:c.1611-12T=
NM_000124.3:c.3779-12T= NP_000115.1:n.3779-12T=
XR_945953.1:n.243-9997A=
NM_001346440.1:c.3779-12T= NP_001333369.1:n.3779-12T=
NM_000124.4:c.3779-12T= MANE Select NP_000115.1:n.3779-12T=
NM_001346440.2:c.3779-12T= NP_001333369.1:n.3779-12T=