Canonical Allele Identifier: CA1908772303
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493070T= , CM000672.2:g.49493070T= GRCh38
NC_000010.10:g.50701116T= , CM000672.1:g.50701116T= GRCh37
NC_000010.9:g.50371122T= NCBI36
NG_009442.1:g.51032A= , LRG_465:g.51032A=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1821+47A= MANE Select ENSP00000348089.5:n.1821+47A=
ENST00000681632.1:n.1899+47A=
ENST00000681659.1:c.1662+47A= ENSP00000505631.1:n.1662+47A=
ENST00000355832.9:c.1821+47A= ENSP00000348089.5:n.1821+47A=
ENST00000475116.1:n.275+7468A=
ENST00000623073.3:c.222+47A= ENSP00000485650.1:n.222+47A=
ENST00000623115.3:c.-70+7468A= ENSP00000485321.1:n.-70+7468A=
ENST00000623318.1:c.222+47A= ENSP00000485423.1:n.222+47A=
NM_000124.3:c.1821+47A= NP_000115.1:n.1821+47A=
NM_001346440.1:c.1821+47A= NP_001333369.1:n.1821+47A=
NM_000124.4:c.1821+47A= MANE Select NP_000115.1:n.1821+47A=
NM_001346440.2:c.1821+47A= NP_001333369.1:n.1821+47A=