Canonical Allele Identifier: CA469788851

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470435-T-C
• MyVariant Identifiers: chr10:g.50678481T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470435T>C , CM000672.2:g.49470435T>C	GRCh38
NC_000010.10:g.50678481T>C , CM000672.1:g.50678481T>C	GRCh37
NC_000010.9:g.50348487T>C	NCBI36
NG_009442.1:g.73667A>G , LRG_465:g.73667A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3525A>G MANE Select	ENSP00000348089.5:p.Glu1175=
ENST00000679552.1:n.596A>G
ENST00000679871.1:n.671A>G
ENST00000679974.1:n.574A>G
ENST00000681632.1:n.4928A>G
ENST00000681659.1:c.3366A>G	ENSP00000505631.1:p.Glu1122=
ENST00000355832.9:c.3525A>G	ENSP00000348089.5:p.Glu1175=
ENST00000623073.3:c.*1821A>G	ENSP00000485650.1:n.*1821A>G
ENST00000623115.3:c.1635A>G	ENSP00000485321.1:p.Glu545=
ENST00000624341.3:c.1357A>G
NM_000124.3:c.3525A>G	NP_000115.1:p.Glu1175=
XR_945953.1:n.243-1130T>C
NM_001346440.1:c.3525A>G	NP_001333369.1:p.Glu1175=
NM_000124.4:c.3525A>G MANE Select	NP_000115.1:p.Glu1175=
NM_001346440.2:c.3525A>G	NP_001333369.1:p.Glu1175=