Canonical Allele Identifier: CA2787928503

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461647C>G , CM000672.2:g.49461647C>G	GRCh38
NC_000010.10:g.50669693C>G , CM000672.1:g.50669693C>G	GRCh37
NC_000010.9:g.50339699C>G	NCBI36
NG_009442.1:g.82455G>C , LRG_465:g.82455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-91G>C MANE Select	ENSP00000348089.5:n.3779-91G>C
ENST00000679552.1:n.850-91G>C
ENST00000679871.1:n.925-91G>C
ENST00000679974.1:n.828-91G>C
ENST00000681632.1:n.5182-91G>C
ENST00000681659.1:c.3620-91G>C	ENSP00000505631.1:n.3620-91G>C
ENST00000355832.9:c.3779-91G>C	ENSP00000348089.5:n.3779-91G>C
ENST00000465653.1:n.101-91G>C
ENST00000623073.3:c.*2075-91G>C	ENSP00000485650.1:n.*2075-91G>C
ENST00000623115.3:c.1889-91G>C	ENSP00000485321.1:n.1889-91G>C
ENST00000624341.3:c.1611-91G>C
NM_000124.3:c.3779-91G>C	NP_000115.1:n.3779-91G>C
XR_945953.1:n.243-9918C>G
NM_001346440.1:c.3779-91G>C	NP_001333369.1:n.3779-91G>C
NM_000124.4:c.3779-91G>C MANE Select	NP_000115.1:n.3779-91G>C
NM_001346440.2:c.3779-91G>C	NP_001333369.1:n.3779-91G>C