Canonical Allele Identifier: CA5495818

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483422T>C , CM000672.2:g.49483422T>C	GRCh38
NC_000010.10:g.50691468T>C , CM000672.1:g.50691468T>C	GRCh37
NC_000010.9:g.50361474T>C	NCBI36
NG_009442.1:g.60680A>G , LRG_465:g.60680A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1916A>G MANE Select	ENSP00000348089.5:p.Asp639Gly
ENST00000681632.1:n.1994A>G
ENST00000681659.1:c.1757A>G	ENSP00000505631.1:p.Asp586Gly
ENST00000355832.9:c.1916A>G	ENSP00000348089.5:p.Asp639Gly
ENST00000475116.1:n.370A>G
ENST00000623073.3:c.*308A>G	ENSP00000485650.1:n.*308A>G
ENST00000623115.3:c.26A>G	ENSP00000485321.1:p.Asp9Gly
ENST00000623318.1:c.317A>G	ENSP00000485423.1:p.Asp106Gly
NM_000124.3:c.1916A>G	NP_000115.1:p.Asp639Gly
NM_001346440.1:c.1916A>G	NP_001333369.1:p.Asp639Gly
NM_000124.4:c.1916A>G MANE Select	NP_000115.1:p.Asp639Gly
NM_001346440.2:c.1916A>G	NP_001333369.1:p.Asp639Gly