Canonical Allele Identifier: CA1908749761
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471202A= , CM000672.2:g.49471202A= GRCh38
NC_000010.10:g.50679248A= , CM000672.1:g.50679248A= GRCh37
NC_000010.9:g.50349254A= NCBI36
NG_009442.1:g.72900T= , LRG_465:g.72900T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2925-82T= MANE Select ENSP00000348089.5:n.2925-82T=
ENST00000679552.1:n.141+309T=
ENST00000679871.1:n.71-82T=
ENST00000679974.1:n.119+309T=
ENST00000681632.1:n.4328-82T=
ENST00000681659.1:c.2766-82T= ENSP00000505631.1:n.2766-82T=
ENST00000355832.9:c.2925-82T= ENSP00000348089.5:n.2925-82T=
ENST00000623073.3:c.*1221-82T= ENSP00000485650.1:n.*1221-82T=
ENST00000623115.3:c.1035-82T= ENSP00000485321.1:n.1035-82T=
ENST00000624341.3:c.757-82T=
NM_000124.3:c.2925-82T= NP_000115.1:n.2925-82T=
XR_945953.1:n.243-363A=
NM_001346440.1:c.2925-82T= NP_001333369.1:n.2925-82T=
NM_000124.4:c.2925-82T= MANE Select NP_000115.1:n.2925-82T=
NM_001346440.2:c.2925-82T= NP_001333369.1:n.2925-82T=