Canonical Allele Identifier: CA376715337

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470580-C-T
• MyVariant Identifiers: chr10:g.50678626C>T (hg19) ; chr10:g.49470580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470580C>T , CM000672.2:g.49470580C>T	GRCh38
NC_000010.10:g.50678626C>T , CM000672.1:g.50678626C>T	GRCh37
NC_000010.9:g.50348632C>T	NCBI36
NG_009442.1:g.73522G>A , LRG_465:g.73522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3380G>A MANE Select	ENSP00000348089.5:p.Gly1127Glu
ENST00000679552.1:n.451G>A
ENST00000679871.1:n.526G>A
ENST00000679974.1:n.429G>A
ENST00000681632.1:n.4783G>A
ENST00000681659.1:c.3221G>A	ENSP00000505631.1:p.Gly1074Glu
ENST00000355832.9:c.3380G>A	ENSP00000348089.5:p.Gly1127Glu
ENST00000623073.3:c.*1676G>A	ENSP00000485650.1:n.*1676G>A
ENST00000623115.3:c.1490G>A	ENSP00000485321.1:p.Gly497Glu
ENST00000624341.3:c.1212G>A
NM_000124.3:c.3380G>A	NP_000115.1:p.Gly1127Glu
XR_945953.1:n.243-985C>T
NM_001346440.1:c.3380G>A	NP_001333369.1:p.Gly1127Glu
NM_000124.4:c.3380G>A MANE Select	NP_000115.1:p.Gly1127Glu
NM_001346440.2:c.3380G>A	NP_001333369.1:p.Gly1127Glu