Canonical Allele Identifier: CA1908749241

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850745346
• gnomAD v4: 10-49470084-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470084C>T , CM000672.2:g.49470084C>T	GRCh38
NC_000010.10:g.50678130C>T , CM000672.1:g.50678130C>T	GRCh37
NC_000010.9:g.50348136C>T	NCBI36
NG_009442.1:g.74018G>A , LRG_465:g.74018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+98G>A MANE Select	ENSP00000348089.5:n.3778+98G>A
ENST00000679552.1:n.849+98G>A
ENST00000679871.1:n.924+98G>A
ENST00000679974.1:n.827+98G>A
ENST00000681632.1:n.5181+98G>A
ENST00000681659.1:c.3619+98G>A	ENSP00000505631.1:n.3619+98G>A
ENST00000355832.9:c.3778+98G>A	ENSP00000348089.5:n.3778+98G>A
ENST00000465653.1:n.100+98G>A
ENST00000623073.3:c.*2074+98G>A	ENSP00000485650.1:n.*2074+98G>A
ENST00000623115.3:c.1888+98G>A	ENSP00000485321.1:n.1888+98G>A
ENST00000624341.3:c.1610+98G>A
NM_000124.3:c.3778+98G>A	NP_000115.1:n.3778+98G>A
XR_945953.1:n.243-1481C>T
NM_001346440.1:c.3778+98G>A	NP_001333369.1:n.3778+98G>A
NM_000124.4:c.3778+98G>A MANE Select	NP_000115.1:n.3778+98G>A
NM_001346440.2:c.3778+98G>A	NP_001333369.1:n.3778+98G>A