Canonical Allele Identifier: CA2499306170

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.[49483504G>A;49493211G>C] , CM000672.2:g.[49483504G>A;49493211G>C]	GRCh38
NC_000010.10:g.[50691550G>A;50701257G>C] , CM000672.1:g.[50691550G>A;50701257G>C]	GRCh37
NC_000010.9:g.[50361556G>A;50371263G>C]	NCBI36
NG_009442.1:g.[50891C>G;60598C>T] , LRG_465:g.[50891C>G;60598C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.[1727C>G;1834C>T] MANE Select	ENSP00000348089.5:p.[Thr576Arg;Arg612Ter]
ENST00000681632.1:n.[1805C>G;1912C>T]
ENST00000681659.1:c.[1568C>G;1675C>T]	ENSP00000505631.1:p.[Thr523Arg;Arg559Ter]
ENST00000355832.9:c.[1727C>G;1834C>T]	ENSP00000348089.5:p.[Thr576Arg;Arg612Ter]
ENST00000475116.1:n.[275+7327C>G;288C>T]
ENST00000623073.3:c.[128C>G;*226C>T]	ENSP00000485650.1:[p.Thr43Arg;n.*226C>T]
ENST00000623115.3:c.[-70+7327C>G;-57C>T]	ENSP00000485321.1:n.[-70+7327C>G;-57C>T]
ENST00000623318.1:c.[128C>G;235C>T]	ENSP00000485423.1:p.[Thr43Arg;Arg79Ter]
NM_000124.3:c.[1727C>G;1834C>T]	NP_000115.1:p.[Thr576Arg;Arg612Ter]
NM_001346440.1:c.[1727C>G;1834C>T]	NP_001333369.1:p.[Thr576Arg;Arg612Ter]
NM_000124.4:c.[1727C>G;1834C>T] MANE Select	NP_000115.1:p.[Thr576Arg;Arg612Ter]
NM_001346440.2:c.[1727C>G;1834C>T]	NP_001333369.1:p.[Thr576Arg;Arg612Ter]