Canonical Allele Identifier: CA376717589

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49471041-A-C
• MyVariant Identifiers: chr10:g.50679087A>C (hg19) ; chr10:g.49471041A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471041A>C , CM000672.2:g.49471041A>C	GRCh38
NC_000010.10:g.50679087A>C , CM000672.1:g.50679087A>C	GRCh37
NC_000010.9:g.50349093A>C	NCBI36
NG_009442.1:g.73061T>G , LRG_465:g.73061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3004T>G MANE Select	ENSP00000348089.5:p.Tyr1002Asp
ENST00000679552.1:n.142-152T>G
ENST00000679871.1:n.150T>G
ENST00000679974.1:n.120-152T>G
ENST00000681632.1:n.4407T>G
ENST00000681659.1:c.2845T>G	ENSP00000505631.1:p.Tyr949Asp
ENST00000355832.9:c.3004T>G	ENSP00000348089.5:p.Tyr1002Asp
ENST00000623073.3:c.*1300T>G	ENSP00000485650.1:n.*1300T>G
ENST00000623115.3:c.1114T>G	ENSP00000485321.1:p.Tyr372Asp
ENST00000624341.3:c.836T>G
NM_000124.3:c.3004T>G	NP_000115.1:p.Tyr1002Asp
XR_945953.1:n.243-524A>C
NM_001346440.1:c.3004T>G	NP_001333369.1:p.Tyr1002Asp
NM_000124.4:c.3004T>G MANE Select	NP_000115.1:p.Tyr1002Asp
NM_001346440.2:c.3004T>G	NP_001333369.1:p.Tyr1002Asp