Canonical Allele Identifier: CA1908772871
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493290G= , CM000672.2:g.49493290G= GRCh38
NC_000010.10:g.50701336G= , CM000672.1:g.50701336G= GRCh37
NC_000010.9:g.50371342G= NCBI36
NG_009442.1:g.50812C= , LRG_465:g.50812C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1686-38C= MANE Select ENSP00000348089.5:n.1686-38C=
ENST00000681632.1:n.1764-38C=
ENST00000681659.1:c.1527-38C= ENSP00000505631.1:n.1527-38C=
ENST00000355832.9:c.1686-38C= ENSP00000348089.5:n.1686-38C=
ENST00000475116.1:n.275+7248C=
ENST00000623073.3:c.87-38C= ENSP00000485650.1:n.87-38C=
ENST00000623115.3:c.-70+7248C= ENSP00000485321.1:n.-70+7248C=
ENST00000623318.1:c.87-38C= ENSP00000485423.1:n.87-38C=
NM_000124.3:c.1686-38C= NP_000115.1:n.1686-38C=
NM_001346440.1:c.1686-38C= NP_001333369.1:n.1686-38C=
NM_000124.4:c.1686-38C= MANE Select NP_000115.1:n.1686-38C=
NM_001346440.2:c.1686-38C= NP_001333369.1:n.1686-38C=