Canonical Allele Identifier: CA376717897

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679155T>A (hg19) ; chr10:g.49471109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471109T>A , CM000672.2:g.49471109T>A	GRCh38
NC_000010.10:g.50679155T>A , CM000672.1:g.50679155T>A	GRCh37
NC_000010.9:g.50349161T>A	NCBI36
NG_009442.1:g.72993A>T , LRG_465:g.72993A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2936A>T MANE Select	ENSP00000348089.5:p.Lys979Met
ENST00000679552.1:n.142-220A>T
ENST00000679871.1:n.82A>T
ENST00000679974.1:n.120-220A>T
ENST00000681632.1:n.4339A>T
ENST00000681659.1:c.2777A>T	ENSP00000505631.1:p.Lys926Met
ENST00000355832.9:c.2936A>T	ENSP00000348089.5:p.Lys979Met
ENST00000623073.3:c.*1232A>T	ENSP00000485650.1:n.*1232A>T
ENST00000623115.3:c.1046A>T	ENSP00000485321.1:p.Lys349Met
ENST00000624341.3:c.768A>T
NM_000124.3:c.2936A>T	NP_000115.1:p.Lys979Met
XR_945953.1:n.243-456T>A
NM_001346440.1:c.2936A>T	NP_001333369.1:p.Lys979Met
NM_000124.4:c.2936A>T MANE Select	NP_000115.1:p.Lys979Met
NM_001346440.2:c.2936A>T	NP_001333369.1:p.Lys979Met