Canonical Allele Identifier: CA1908778468
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49500477A= , CM000672.2:g.49500477A= GRCh38
NC_000010.10:g.50708523A= , CM000672.1:g.50708523A= GRCh37
NC_000010.9:g.50378529A= NCBI36
NG_009442.1:g.43625T= , LRG_465:g.43625T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1685+61T= MANE Select ENSP00000348089.5:n.1685+61T=
ENST00000681632.1:n.1763+61T=
ENST00000681659.1:c.1526+5407T= ENSP00000505631.1:n.1526+5407T=
ENST00000355832.9:c.1685+61T= ENSP00000348089.5:n.1685+61T=
ENST00000475116.1:n.275+61T=
ENST00000623073.3:c.86+61T= ENSP00000485650.1:n.86+61T=
ENST00000623115.3:c.-70+61T= ENSP00000485321.1:n.-70+61T=
ENST00000623318.1:c.86+61T= ENSP00000485423.1:n.86+61T=
NM_000124.3:c.1685+61T= NP_000115.1:n.1685+61T=
NM_001346440.1:c.1685+61T= NP_001333369.1:n.1685+61T=
NM_000124.4:c.1685+61T= MANE Select NP_000115.1:n.1685+61T=
NM_001346440.2:c.1685+61T= NP_001333369.1:n.1685+61T=