Canonical Allele Identifier: CA206616427

Gene: ERCC6

Linked Data

• dbSNP Id: rs951690477
• gnomAD v2: 10-50722814-T-C
• gnomAD v3: 10-49514768-T-C
• gnomAD v4: 10-49514768-T-C
• MyVariant Identifiers: chr10:g.50722814T>C (hg19) ; chr10:g.49514768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514768T>C , CM000672.2:g.49514768T>C	GRCh38
NC_000010.10:g.50722814T>C , CM000672.1:g.50722814T>C	GRCh37
NC_000010.9:g.50392820T>C	NCBI36
NG_009442.1:g.29334A>G , LRG_465:g.29334A>G
NG_033155.1:g.14514A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8756A>G MANE Select	ENSP00000348089.5:n.1398-8756A>G
ENST00000679811.1:n.1481-8756A>G
ENST00000680107.1:c.*2331A>G	ENSP00000505909.1:n.*2331A>G
ENST00000681632.1:n.1476-8756A>G
ENST00000681659.1:c.1398-8756A>G	ENSP00000505631.1:n.1398-8756A>G
ENST00000355832.9:c.1398-8756A>G	ENSP00000348089.5:n.1398-8756A>G
NM_000124.3:c.1398-8756A>G	NP_000115.1:n.1398-8756A>G
NM_001346440.1:c.1398-8756A>G	NP_001333369.1:n.1398-8756A>G
NM_000124.4:c.1398-8756A>G MANE Select	NP_000115.1:n.1398-8756A>G
NM_001346440.2:c.1398-8756A>G	NP_001333369.1:n.1398-8756A>G