Canonical Allele Identifier: CA376729184

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708722C>G (hg19) ; chr10:g.49500676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500676C>G , CM000672.2:g.49500676C>G	GRCh38
NC_000010.10:g.50708722C>G , CM000672.1:g.50708722C>G	GRCh37
NC_000010.9:g.50378728C>G	NCBI36
NG_009442.1:g.43426G>C , LRG_465:g.43426G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1547G>C MANE Select	ENSP00000348089.5:p.Arg516Thr
ENST00000681632.1:n.1625G>C
ENST00000681659.1:c.1526+5208G>C	ENSP00000505631.1:n.1526+5208G>C
ENST00000355832.9:c.1547G>C	ENSP00000348089.5:p.Arg516Thr
ENST00000475116.1:n.137G>C
ENST00000623073.3:c.-53G>C	ENSP00000485650.1:n.-53G>C
ENST00000623115.3:c.-208G>C	ENSP00000485321.1:n.-208G>C
ENST00000623318.1:c.-53G>C	ENSP00000485423.1:n.-53G>C
ENST00000623788.1:n.546G>C
NM_000124.3:c.1547G>C	NP_000115.1:p.Arg516Thr
NM_001346440.1:c.1547G>C	NP_001333369.1:p.Arg516Thr
NM_000124.4:c.1547G>C MANE Select	NP_000115.1:p.Arg516Thr
NM_001346440.2:c.1547G>C	NP_001333369.1:p.Arg516Thr