Canonical Allele Identifier: CA469600370

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461494-G-A
• MyVariant Identifiers: chr10:g.50669540G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461494G>A , CM000672.2:g.49461494G>A	GRCh38
NC_000010.10:g.50669540G>A , CM000672.1:g.50669540G>A	GRCh37
NC_000010.9:g.50339546G>A	NCBI36
NG_009442.1:g.82608C>T , LRG_465:g.82608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3841C>T MANE Select	ENSP00000348089.5:p.Leu1281=
ENST00000679552.1:n.912C>T
ENST00000679871.1:n.987C>T
ENST00000679974.1:n.890C>T
ENST00000681632.1:n.5244C>T
ENST00000681659.1:c.3682C>T	ENSP00000505631.1:p.Leu1228=
ENST00000355832.9:c.3841C>T	ENSP00000348089.5:p.Leu1281=
ENST00000465653.1:n.163C>T
ENST00000623073.3:c.*2137C>T	ENSP00000485650.1:n.*2137C>T
ENST00000623115.3:c.1951C>T	ENSP00000485321.1:p.Leu651=
ENST00000624341.3:c.1673C>T
NM_000124.3:c.3841C>T	NP_000115.1:p.Leu1281=
XR_945953.1:n.243-10071G>A
NM_001346440.1:c.3841C>T	NP_001333369.1:p.Leu1281=
NM_000124.4:c.3841C>T MANE Select	NP_000115.1:p.Leu1281=
NM_001346440.2:c.3841C>T	NP_001333369.1:p.Leu1281=