Canonical Allele Identifier: CA376726418

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701177A>G (hg19) ; chr10:g.49493131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493131A>G , CM000672.2:g.49493131A>G	GRCh38
NC_000010.10:g.50701177A>G , CM000672.1:g.50701177A>G	GRCh37
NC_000010.9:g.50371183A>G	NCBI36
NG_009442.1:g.50971T>C , LRG_465:g.50971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1807T>C MANE Select	ENSP00000348089.5:p.Tyr603His
ENST00000681632.1:n.1885T>C
ENST00000681659.1:c.1648T>C	ENSP00000505631.1:p.Tyr550His
ENST00000355832.9:c.1807T>C	ENSP00000348089.5:p.Tyr603His
ENST00000475116.1:n.275+7407T>C
ENST00000623073.3:c.208T>C	ENSP00000485650.1:p.Tyr70His
ENST00000623115.3:c.-70+7407T>C	ENSP00000485321.1:n.-70+7407T>C
ENST00000623318.1:c.208T>C	ENSP00000485423.1:p.Tyr70His
NM_000124.3:c.1807T>C	NP_000115.1:p.Tyr603His
NM_001346440.1:c.1807T>C	NP_001333369.1:p.Tyr603His
NM_000124.4:c.1807T>C MANE Select	NP_000115.1:p.Tyr603His
NM_001346440.2:c.1807T>C	NP_001333369.1:p.Tyr603His