Canonical Allele Identifier: CA469788382

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678280G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470234G>A , CM000672.2:g.49470234G>A	GRCh38
NC_000010.10:g.50678280G>A , CM000672.1:g.50678280G>A	GRCh37
NC_000010.9:g.50348286G>A	NCBI36
NG_009442.1:g.73868C>T , LRG_465:g.73868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3726C>T MANE Select	ENSP00000348089.5:p.Ala1242=
ENST00000679552.1:n.797C>T
ENST00000679871.1:n.872C>T
ENST00000679974.1:n.775C>T
ENST00000681632.1:n.5129C>T
ENST00000681659.1:c.3567C>T	ENSP00000505631.1:p.Ala1189=
ENST00000355832.9:c.3726C>T	ENSP00000348089.5:p.Ala1242=
ENST00000465653.1:n.48C>T
ENST00000623073.3:c.*2022C>T	ENSP00000485650.1:n.*2022C>T
ENST00000623115.3:c.1836C>T	ENSP00000485321.1:p.Ala612=
ENST00000624341.3:c.1558C>T
NM_000124.3:c.3726C>T	NP_000115.1:p.Ala1242=
XR_945953.1:n.243-1331G>A
NM_001346440.1:c.3726C>T	NP_001333369.1:p.Ala1242=
NM_000124.4:c.3726C>T MANE Select	NP_000115.1:p.Ala1242=
NM_001346440.2:c.3726C>T	NP_001333369.1:p.Ala1242=