Canonical Allele Identifier: CA376708445

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461478-G-C
• MyVariant Identifiers: chr10:g.50669524G>C (hg19) ; chr10:g.49461478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461478G>C , CM000672.2:g.49461478G>C	GRCh38
NC_000010.10:g.50669524G>C , CM000672.1:g.50669524G>C	GRCh37
NC_000010.9:g.50339530G>C	NCBI36
NG_009442.1:g.82624C>G , LRG_465:g.82624C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3857C>G MANE Select	ENSP00000348089.5:p.Ala1286Gly
ENST00000679552.1:n.928C>G
ENST00000679871.1:n.1003C>G
ENST00000679974.1:n.906C>G
ENST00000681632.1:n.5260C>G
ENST00000681659.1:c.3698C>G	ENSP00000505631.1:p.Ala1233Gly
ENST00000355832.9:c.3857C>G	ENSP00000348089.5:p.Ala1286Gly
ENST00000465653.1:n.179C>G
ENST00000623073.3:c.*2153C>G	ENSP00000485650.1:n.*2153C>G
ENST00000623115.3:c.1967C>G	ENSP00000485321.1:p.Ala656Gly
ENST00000624341.3:c.1689C>G
NM_000124.3:c.3857C>G	NP_000115.1:p.Ala1286Gly
XR_945953.1:n.243-10087G>C
NM_001346440.1:c.3857C>G	NP_001333369.1:p.Ala1286Gly
NM_000124.4:c.3857C>G MANE Select	NP_000115.1:p.Ala1286Gly
NM_001346440.2:c.3857C>G	NP_001333369.1:p.Ala1286Gly