Canonical Allele Identifier: CA376726482
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493163A>G , CM000672.2:g.49493163A>G GRCh38
NC_000010.10:g.50701209A>G , CM000672.1:g.50701209A>G GRCh37
NC_000010.9:g.50371215A>G NCBI36
NG_009442.1:g.50939T>C , LRG_465:g.50939T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1775T>C MANE Select ENSP00000348089.5:p.Phe592Ser
ENST00000681632.1:n.1853T>C
ENST00000681659.1:c.1616T>C ENSP00000505631.1:p.Phe539Ser
ENST00000355832.9:c.1775T>C ENSP00000348089.5:p.Phe592Ser
ENST00000475116.1:n.275+7375T>C
ENST00000623073.3:c.176T>C ENSP00000485650.1:p.Phe59Ser
ENST00000623115.3:c.-70+7375T>C ENSP00000485321.1:n.-70+7375T>C
ENST00000623318.1:c.176T>C ENSP00000485423.1:p.Phe59Ser
NM_000124.3:c.1775T>C NP_000115.1:p.Phe592Ser
NM_001346440.1:c.1775T>C NP_001333369.1:p.Phe592Ser
NM_000124.4:c.1775T>C MANE Select NP_000115.1:p.Phe592Ser
NM_001346440.2:c.1775T>C NP_001333369.1:p.Phe592Ser