Canonical Allele Identifier: CA206612518

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49455535T>C , CM000672.2:g.49455535T>C	GRCh38
NC_000010.10:g.50663581T>C , CM000672.1:g.50663581T>C	GRCh37
NC_000010.9:g.50333587T>C	NCBI36
NG_009442.1:g.88567A>G , LRG_465:g.88567A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.*3280A>G MANE Select	NP_000115.1:n.*3280A>G
ENST00000355832.10:c.*3280A>G MANE Select	ENSP00000348089.5:n.*3280A>G
NM_000124.3:c.*3280A>G	NP_000115.1:n.*3280A>G
NM_001346440.1:c.*3280A>G	NP_001333369.1:n.*3280A>G
NM_001346440.2:c.*3280A>G	NP_001333369.1:n.*3280A>G
ENST00000355832.9:c.*3280A>G	ENSP00000348089.5:n.*3280A>G
ENST00000624341.3:c.5594A>G
ENST00000679871.1:n.4908A>G
ENST00000679974.1:n.4811A>G
ENST00000681632.1:n.9165A>G
ENST00000681659.1:c.*3280A>G	ENSP00000505631.1:n.*3280A>G
XR_945953.1:n.243-16030T>C