Canonical Allele Identifier: CA376726508
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493175C>T , CM000672.2:g.49493175C>T GRCh38
NC_000010.10:g.50701221C>T , CM000672.1:g.50701221C>T GRCh37
NC_000010.9:g.50371227C>T NCBI36
NG_009442.1:g.50927G>A , LRG_465:g.50927G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1763G>A MANE Select ENSP00000348089.5:p.Trp588Ter
ENST00000681632.1:n.1841G>A
ENST00000681659.1:c.1604G>A ENSP00000505631.1:p.Trp535Ter
ENST00000355832.9:c.1763G>A ENSP00000348089.5:p.Trp588Ter
ENST00000475116.1:n.275+7363G>A
ENST00000623073.3:c.164G>A ENSP00000485650.1:p.Trp55Ter
ENST00000623115.3:c.-70+7363G>A ENSP00000485321.1:n.-70+7363G>A
ENST00000623318.1:c.164G>A ENSP00000485423.1:p.Trp55Ter
NM_000124.3:c.1763G>A NP_000115.1:p.Trp588Ter
NM_001346440.1:c.1763G>A NP_001333369.1:p.Trp588Ter
NM_000124.4:c.1763G>A MANE Select NP_000115.1:p.Trp588Ter
NM_001346440.2:c.1763G>A NP_001333369.1:p.Trp588Ter