Canonical Allele Identifier: CA376724372

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482802A>G , CM000672.2:g.49482802A>G	GRCh38
NC_000010.10:g.50690848A>G , CM000672.1:g.50690848A>G	GRCh37
NC_000010.9:g.50360854A>G	NCBI36
NG_009442.1:g.61300T>C , LRG_465:g.61300T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2054T>C MANE Select	NP_000115.1:p.Leu685Pro
ENST00000355832.10:c.2054T>C MANE Select	ENSP00000348089.5:p.Leu685Pro
NM_000124.3:c.2054T>C	NP_000115.1:p.Leu685Pro
NM_001346440.1:c.2054T>C	NP_001333369.1:p.Leu685Pro
NM_001346440.2:c.2054T>C	NP_001333369.1:p.Leu685Pro
ENST00000355832.9:c.2054T>C	ENSP00000348089.5:p.Leu685Pro
ENST00000623073.3:c.*446T>C	ENSP00000485650.1:n.*446T>C
ENST00000623115.3:c.164T>C	ENSP00000485321.1:p.Leu55Pro
ENST00000681632.1:n.2132T>C
ENST00000681659.1:c.1895T>C	ENSP00000505631.1:p.Leu632Pro