Canonical Allele Identifier: CA376718363

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49472383-A-C
• MyVariant Identifiers: chr10:g.50680429A>C (hg19) ; chr10:g.49472383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472383A>C , CM000672.2:g.49472383A>C	GRCh38
NC_000010.10:g.50680429A>C , CM000672.1:g.50680429A>C	GRCh37
NC_000010.9:g.50350435A>C	NCBI36
NG_009442.1:g.71719T>G , LRG_465:g.71719T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2917T>G MANE Select	ENSP00000348089.5:p.Tyr973Asp
ENST00000681632.1:n.4320T>G
ENST00000681659.1:c.2758T>G	ENSP00000505631.1:p.Tyr920Asp
ENST00000355832.9:c.2917T>G	ENSP00000348089.5:p.Tyr973Asp
ENST00000623073.3:c.*1213T>G	ENSP00000485650.1:n.*1213T>G
ENST00000623115.3:c.1027T>G	ENSP00000485321.1:p.Tyr343Asp
ENST00000624341.3:c.749T>G
NM_000124.3:c.2917T>G	NP_000115.1:p.Tyr973Asp
XR_945953.1:n.690-320A>C
NM_001346440.1:c.2917T>G	NP_001333369.1:p.Tyr973Asp
NM_000124.4:c.2917T>G MANE Select	NP_000115.1:p.Tyr973Asp
NM_001346440.2:c.2917T>G	NP_001333369.1:p.Tyr973Asp