Canonical Allele Identifier: CA376708242

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669421A>C (hg19) ; chr10:g.49461375A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461375A>C , CM000672.2:g.49461375A>C	GRCh38
NC_000010.10:g.50669421A>C , CM000672.1:g.50669421A>C	GRCh37
NC_000010.9:g.50339427A>C	NCBI36
NG_009442.1:g.82727T>G , LRG_465:g.82727T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3960T>G MANE Select	ENSP00000348089.5:p.Ile1320Met
ENST00000679552.1:n.1031T>G
ENST00000679871.1:n.1106T>G
ENST00000679974.1:n.1009T>G
ENST00000681632.1:n.5363T>G
ENST00000681659.1:c.3801T>G	ENSP00000505631.1:p.Ile1267Met
ENST00000355832.9:c.3960T>G	ENSP00000348089.5:p.Ile1320Met
ENST00000465653.1:n.282T>G
ENST00000623073.3:c.*2256T>G	ENSP00000485650.1:n.*2256T>G
ENST00000623115.3:c.2070T>G	ENSP00000485321.1:p.Ile690Met
ENST00000624341.3:c.1792T>G
NM_000124.3:c.3960T>G	NP_000115.1:p.Ile1320Met
XR_945953.1:n.243-10190A>C
NM_001346440.1:c.3960T>G	NP_001333369.1:p.Ile1320Met
NM_000124.4:c.3960T>G MANE Select	NP_000115.1:p.Ile1320Met
NM_001346440.2:c.3960T>G	NP_001333369.1:p.Ile1320Met