Canonical Allele Identifier: CA206576465

Gene: ERCC6

Linked Data

• dbSNP Id: rs1009996762
• gnomAD v4: 10-49461598-T-C
• MyVariant Identifiers: chr10:g.50669644T>C (hg19) ; chr10:g.49461598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461598T>C , CM000672.2:g.49461598T>C	GRCh38
NC_000010.10:g.50669644T>C , CM000672.1:g.50669644T>C	GRCh37
NC_000010.9:g.50339650T>C	NCBI36
NG_009442.1:g.82504A>G , LRG_465:g.82504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-42A>G MANE Select	ENSP00000348089.5:n.3779-42A>G
ENST00000679552.1:n.850-42A>G
ENST00000679871.1:n.925-42A>G
ENST00000679974.1:n.828-42A>G
ENST00000681632.1:n.5182-42A>G
ENST00000681659.1:c.3620-42A>G	ENSP00000505631.1:n.3620-42A>G
ENST00000355832.9:c.3779-42A>G	ENSP00000348089.5:n.3779-42A>G
ENST00000465653.1:n.101-42A>G
ENST00000623073.3:c.*2075-42A>G	ENSP00000485650.1:n.*2075-42A>G
ENST00000623115.3:c.1889-42A>G	ENSP00000485321.1:n.1889-42A>G
ENST00000624341.3:c.1611-42A>G
NM_000124.3:c.3779-42A>G	NP_000115.1:n.3779-42A>G
XR_945953.1:n.243-9967T>C
NM_001346440.1:c.3779-42A>G	NP_001333369.1:n.3779-42A>G
NM_000124.4:c.3779-42A>G MANE Select	NP_000115.1:n.3779-42A>G
NM_001346440.2:c.3779-42A>G	NP_001333369.1:n.3779-42A>G