Canonical Allele Identifier: CA2787928482

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461626T>C , CM000672.2:g.49461626T>C	GRCh38
NC_000010.10:g.50669672T>C , CM000672.1:g.50669672T>C	GRCh37
NC_000010.9:g.50339678T>C	NCBI36
NG_009442.1:g.82476A>G , LRG_465:g.82476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-70A>G MANE Select	ENSP00000348089.5:n.3779-70A>G
ENST00000679552.1:n.850-70A>G
ENST00000679871.1:n.925-70A>G
ENST00000679974.1:n.828-70A>G
ENST00000681632.1:n.5182-70A>G
ENST00000681659.1:c.3620-70A>G	ENSP00000505631.1:n.3620-70A>G
ENST00000355832.9:c.3779-70A>G	ENSP00000348089.5:n.3779-70A>G
ENST00000465653.1:n.101-70A>G
ENST00000623073.3:c.*2075-70A>G	ENSP00000485650.1:n.*2075-70A>G
ENST00000623115.3:c.1889-70A>G	ENSP00000485321.1:n.1889-70A>G
ENST00000624341.3:c.1611-70A>G
NM_000124.3:c.3779-70A>G	NP_000115.1:n.3779-70A>G
XR_945953.1:n.243-9939T>C
NM_001346440.1:c.3779-70A>G	NP_001333369.1:n.3779-70A>G
NM_000124.4:c.3779-70A>G MANE Select	NP_000115.1:n.3779-70A>G
NM_001346440.2:c.3779-70A>G	NP_001333369.1:n.3779-70A>G