Canonical Allele Identifier: CA469789056

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470759-T-C
• MyVariant Identifiers: chr10:g.50678805T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470759T>C , CM000672.2:g.49470759T>C	GRCh38
NC_000010.10:g.50678805T>C , CM000672.1:g.50678805T>C	GRCh37
NC_000010.9:g.50348811T>C	NCBI36
NG_009442.1:g.73343A>G , LRG_465:g.73343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3201A>G MANE Select	ENSP00000348089.5:p.Thr1067=
ENST00000679552.1:n.272A>G
ENST00000679871.1:n.347A>G
ENST00000679974.1:n.250A>G
ENST00000681632.1:n.4604A>G
ENST00000681659.1:c.3042A>G	ENSP00000505631.1:p.Thr1014=
ENST00000355832.9:c.3201A>G	ENSP00000348089.5:p.Thr1067=
ENST00000623073.3:c.*1497A>G	ENSP00000485650.1:n.*1497A>G
ENST00000623115.3:c.1311A>G	ENSP00000485321.1:p.Thr437=
ENST00000624341.3:c.1033A>G
NM_000124.3:c.3201A>G	NP_000115.1:p.Thr1067=
XR_945953.1:n.243-806T>C
NM_001346440.1:c.3201A>G	NP_001333369.1:p.Thr1067=
NM_000124.4:c.3201A>G MANE Select	NP_000115.1:p.Thr1067=
NM_001346440.2:c.3201A>G	NP_001333369.1:p.Thr1067=