Canonical Allele Identifier: CA376716727

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678854G>T (hg19) ; chr10:g.49470808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470808G>T , CM000672.2:g.49470808G>T	GRCh38
NC_000010.10:g.50678854G>T , CM000672.1:g.50678854G>T	GRCh37
NC_000010.9:g.50348860G>T	NCBI36
NG_009442.1:g.73294C>A , LRG_465:g.73294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3152C>A MANE Select	ENSP00000348089.5:p.Pro1051Gln
ENST00000679552.1:n.223C>A
ENST00000679871.1:n.298C>A
ENST00000679974.1:n.201C>A
ENST00000681632.1:n.4555C>A
ENST00000681659.1:c.2993C>A	ENSP00000505631.1:p.Pro998Gln
ENST00000355832.9:c.3152C>A	ENSP00000348089.5:p.Pro1051Gln
ENST00000623073.3:c.*1448C>A	ENSP00000485650.1:n.*1448C>A
ENST00000623115.3:c.1262C>A	ENSP00000485321.1:p.Pro421Gln
ENST00000624341.3:c.984C>A
NM_000124.3:c.3152C>A	NP_000115.1:p.Pro1051Gln
XR_945953.1:n.243-757G>T
NM_001346440.1:c.3152C>A	NP_001333369.1:p.Pro1051Gln
NM_000124.4:c.3152C>A MANE Select	NP_000115.1:p.Pro1051Gln
NM_001346440.2:c.3152C>A	NP_001333369.1:p.Pro1051Gln