Canonical Allele Identifier: CA1908750325
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49472484A= , CM000672.2:g.49472484A= GRCh38
NC_000010.10:g.50680530A= , CM000672.1:g.50680530A= GRCh37
NC_000010.9:g.50350536A= NCBI36
NG_009442.1:g.71618T= , LRG_465:g.71618T=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2830-14T= MANE Select ENSP00000348089.5:n.2830-14T=
ENST00000681632.1:n.4219T=
ENST00000681659.1:c.2671-14T= ENSP00000505631.1:n.2671-14T=
ENST00000355832.9:c.2830-14T= ENSP00000348089.5:n.2830-14T=
ENST00000623073.3:c.*1126-14T= ENSP00000485650.1:n.*1126-14T=
ENST00000623115.3:c.940-14T= ENSP00000485321.1:n.940-14T=
ENST00000624341.3:c.662-14T=
NM_000124.3:c.2830-14T= NP_000115.1:n.2830-14T=
XR_945953.1:n.690-219A=
NM_001346440.1:c.2830-14T= NP_001333369.1:n.2830-14T=
NM_000124.4:c.2830-14T= MANE Select NP_000115.1:n.2830-14T=
NM_001346440.2:c.2830-14T= NP_001333369.1:n.2830-14T=