Canonical Allele Identifier: CA376708291

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850579662
• gnomAD v3: 10-49461398-T-C
• gnomAD v4: 10-49461398-T-C
• MyVariant Identifiers: chr10:g.50669444T>C (hg19) ; chr10:g.49461398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461398T>C , CM000672.2:g.49461398T>C	GRCh38
NC_000010.10:g.50669444T>C , CM000672.1:g.50669444T>C	GRCh37
NC_000010.9:g.50339450T>C	NCBI36
NG_009442.1:g.82704A>G , LRG_465:g.82704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3937A>G MANE Select	ENSP00000348089.5:p.Thr1313Ala
ENST00000679552.1:n.1008A>G
ENST00000679871.1:n.1083A>G
ENST00000679974.1:n.986A>G
ENST00000681632.1:n.5340A>G
ENST00000681659.1:c.3778A>G	ENSP00000505631.1:p.Thr1260Ala
ENST00000355832.9:c.3937A>G	ENSP00000348089.5:p.Thr1313Ala
ENST00000465653.1:n.259A>G
ENST00000623073.3:c.*2233A>G	ENSP00000485650.1:n.*2233A>G
ENST00000623115.3:c.2047A>G	ENSP00000485321.1:p.Thr683Ala
ENST00000624341.3:c.1769A>G
NM_000124.3:c.3937A>G	NP_000115.1:p.Thr1313Ala
XR_945953.1:n.243-10167T>C
NM_001346440.1:c.3937A>G	NP_001333369.1:p.Thr1313Ala
NM_000124.4:c.3937A>G MANE Select	NP_000115.1:p.Thr1313Ala
NM_001346440.2:c.3937A>G	NP_001333369.1:p.Thr1313Ala