Canonical Allele Identifier: CA1908772390
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493110G= , CM000672.2:g.49493110G= GRCh38
NC_000010.10:g.50701156G= , CM000672.1:g.50701156G= GRCh37
NC_000010.9:g.50371162G= NCBI36
NG_009442.1:g.50992C= , LRG_465:g.50992C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1821+7C= MANE Select ENSP00000348089.5:n.1821+7C=
ENST00000681632.1:n.1899+7C=
ENST00000681659.1:c.1662+7C= ENSP00000505631.1:n.1662+7C=
ENST00000355832.9:c.1821+7C= ENSP00000348089.5:n.1821+7C=
ENST00000475116.1:n.275+7428C=
ENST00000623073.3:c.222+7C= ENSP00000485650.1:n.222+7C=
ENST00000623115.3:c.-70+7428C= ENSP00000485321.1:n.-70+7428C=
ENST00000623318.1:c.222+7C= ENSP00000485423.1:n.222+7C=
NM_000124.3:c.1821+7C= NP_000115.1:n.1821+7C=
NM_001346440.1:c.1821+7C= NP_001333369.1:n.1821+7C=
NM_000124.4:c.1821+7C= MANE Select NP_000115.1:n.1821+7C=
NM_001346440.2:c.1821+7C= NP_001333369.1:n.1821+7C=