Canonical Allele Identifier: CA1908745421
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461316G= , CM000672.2:g.49461316G= GRCh38
NC_000010.10:g.50669362G= , CM000672.1:g.50669362G= GRCh37
NC_000010.9:g.50339368G= NCBI36
NG_009442.1:g.82786C= , LRG_465:g.82786C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.3983+36C= MANE Select ENSP00000348089.5:n.3983+36C=
ENST00000679552.1:n.1054+36C=
ENST00000679871.1:n.1129+36C=
ENST00000679974.1:n.1032+36C=
ENST00000681632.1:n.5386+36C=
ENST00000681659.1:c.3824+36C= ENSP00000505631.1:n.3824+36C=
ENST00000355832.9:c.3983+36C= ENSP00000348089.5:n.3983+36C=
ENST00000465653.1:n.305+36C=
ENST00000623073.3:c.*2279+36C= ENSP00000485650.1:n.*2279+36C=
ENST00000623115.3:c.2093+36C= ENSP00000485321.1:n.2093+36C=
ENST00000624341.3:c.1815+36C=
NM_000124.3:c.3983+36C= NP_000115.1:n.3983+36C=
XR_945953.1:n.243-10249G=
NM_001346440.1:c.3983+36C= NP_001333369.1:n.3983+36C=
NM_000124.4:c.3983+36C= MANE Select NP_000115.1:n.3983+36C=
NM_001346440.2:c.3983+36C= NP_001333369.1:n.3983+36C=