Canonical Allele Identifier: CA469788972

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50667179T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459133T>A , CM000672.2:g.49459133T>A	GRCh38
NC_000010.10:g.50667179T>A , CM000672.1:g.50667179T>A	GRCh37
NC_000010.9:g.50337185T>A	NCBI36
NG_009442.1:g.84969A>T , LRG_465:g.84969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4164A>T MANE Select	ENSP00000348089.5:p.Ser1388=
ENST00000679552.1:n.2373A>T
ENST00000679871.1:n.1310A>T
ENST00000679974.1:n.1213A>T
ENST00000681632.1:n.5567A>T
ENST00000681659.1:c.4005A>T	ENSP00000505631.1:p.Ser1335=
ENST00000355832.9:c.4164A>T	ENSP00000348089.5:p.Ser1388=
ENST00000623073.3:c.*2460A>T	ENSP00000485650.1:n.*2460A>T
ENST00000623115.3:c.2274A>T	ENSP00000485321.1:p.Ser758=
ENST00000624341.3:c.1996A>T
NM_000124.3:c.4164A>T	NP_000115.1:p.Ser1388=
XR_945953.1:n.243-12432T>A
NM_001346440.1:c.4164A>T	NP_001333369.1:p.Ser1388=
NM_000124.4:c.4164A>T MANE Select	NP_000115.1:p.Ser1388=
NM_001346440.2:c.4164A>T	NP_001333369.1:p.Ser1388=