Canonical Allele Identifier: CA376726440

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701188T>G (hg19) ; chr10:g.49493142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493142T>G , CM000672.2:g.49493142T>G	GRCh38
NC_000010.10:g.50701188T>G , CM000672.1:g.50701188T>G	GRCh37
NC_000010.9:g.50371194T>G	NCBI36
NG_009442.1:g.50960A>C , LRG_465:g.50960A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1796A>C MANE Select	ENSP00000348089.5:p.Glu599Ala
ENST00000681632.1:n.1874A>C
ENST00000681659.1:c.1637A>C	ENSP00000505631.1:p.Glu546Ala
ENST00000355832.9:c.1796A>C	ENSP00000348089.5:p.Glu599Ala
ENST00000475116.1:n.275+7396A>C
ENST00000623073.3:c.197A>C	ENSP00000485650.1:p.Glu66Ala
ENST00000623115.3:c.-70+7396A>C	ENSP00000485321.1:n.-70+7396A>C
ENST00000623318.1:c.197A>C	ENSP00000485423.1:p.Glu66Ala
NM_000124.3:c.1796A>C	NP_000115.1:p.Glu599Ala
NM_001346440.1:c.1796A>C	NP_001333369.1:p.Glu599Ala
NM_000124.4:c.1796A>C MANE Select	NP_000115.1:p.Glu599Ala
NM_001346440.2:c.1796A>C	NP_001333369.1:p.Glu599Ala