Canonical Allele Identifier: CA376753872

Gene: ERCC6

Linked Data

• dbSNP Id: rs1564442536
• gnomAD v2: 10-50732540-G-C
• gnomAD v4: 10-49524494-G-C
• MyVariant Identifiers: chr10:g.50732540G>C (hg19) ; chr10:g.49524494G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524494G>C , CM000672.2:g.49524494G>C	GRCh38
NC_000010.10:g.50732540G>C , CM000672.1:g.50732540G>C	GRCh37
NC_000010.9:g.50402546G>C	NCBI36
NG_009442.1:g.19608C>G , LRG_465:g.19608C>G
NG_033155.1:g.4788C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.936C>G MANE Select	ENSP00000348089.5:p.Asn312Lys
ENST00000447839.7:c.936C>G MANE Plus Clinical	ENSP00000387966.2:p.Asn312Lys
ENST00000679596.1:c.*565C>G	ENSP00000504862.1:n.*565C>G
ENST00000679811.1:n.1019C>G
ENST00000680107.1:c.652+3923C>G	ENSP00000505909.1:n.652+3923C>G
ENST00000680233.1:n.1029C>G
ENST00000681632.1:n.1014C>G
ENST00000681659.1:c.936C>G	ENSP00000505631.1:p.Asn312Lys
ENST00000355832.9:c.936C>G	ENSP00000348089.5:p.Asn312Lys
ENST00000447839.6:c.936C>G	ENSP00000387966.2:p.Asn312Lys
ENST00000515869.1:c.936C>G	ENSP00000423550.1:p.Asn312Lys
NM_000124.3:c.936C>G	NP_000115.1:p.Asn312Lys
NM_001277058.1:c.936C>G	NP_001263987.1:p.Asn312Lys
NM_001277059.1:c.936C>G	NP_001263988.1:p.Asn312Lys
NM_001346440.1:c.936C>G	NP_001333369.1:p.Asn312Lys
NM_000124.4:c.936C>G MANE Select	NP_000115.1:p.Asn312Lys
NM_001277058.2:c.936C>G MANE Plus Clinical	NP_001263987.1:p.Asn312Lys
NM_001277059.2:c.936C>G	NP_001263988.1:p.Asn312Lys
NM_001346440.2:c.936C>G	NP_001333369.1:p.Asn312Lys