Canonical Allele Identifier: CA376724293

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690812A>T (hg19) ; chr10:g.49482766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482766A>T , CM000672.2:g.49482766A>T	GRCh38
NC_000010.10:g.50690812A>T , CM000672.1:g.50690812A>T	GRCh37
NC_000010.9:g.50360818A>T	NCBI36
NG_009442.1:g.61336T>A , LRG_465:g.61336T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2090T>A MANE Select	ENSP00000348089.5:p.Leu697Ter
ENST00000681632.1:n.2168T>A
ENST00000681659.1:c.1931T>A	ENSP00000505631.1:p.Leu644Ter
ENST00000355832.9:c.2090T>A	ENSP00000348089.5:p.Leu697Ter
ENST00000623073.3:c.*482T>A	ENSP00000485650.1:n.*482T>A
ENST00000623115.3:c.200T>A	ENSP00000485321.1:p.Leu67Ter
NM_000124.3:c.2090T>A	NP_000115.1:p.Leu697Ter
NM_001346440.1:c.2090T>A	NP_001333369.1:p.Leu697Ter
NM_000124.4:c.2090T>A MANE Select	NP_000115.1:p.Leu697Ter
NM_001346440.2:c.2090T>A	NP_001333369.1:p.Leu697Ter