Canonical Allele Identifier: CA2843222350

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461310T>A , CM000672.2:g.49461310T>A	GRCh38
NC_000010.10:g.50669356T>A , CM000672.1:g.50669356T>A	GRCh37
NC_000010.9:g.50339362T>A	NCBI36
NG_009442.1:g.82792A>T , LRG_465:g.82792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+42A>T MANE Select	ENSP00000348089.5:n.3983+42A>T
ENST00000679552.1:n.1054+42A>T
ENST00000679871.1:n.1129+42A>T
ENST00000679974.1:n.1032+42A>T
ENST00000681632.1:n.5386+42A>T
ENST00000681659.1:c.3824+42A>T	ENSP00000505631.1:n.3824+42A>T
ENST00000355832.9:c.3983+42A>T	ENSP00000348089.5:n.3983+42A>T
ENST00000465653.1:n.305+42A>T
ENST00000623073.3:c.*2279+42A>T	ENSP00000485650.1:n.*2279+42A>T
ENST00000623115.3:c.2093+42A>T	ENSP00000485321.1:n.2093+42A>T
ENST00000624341.3:c.1815+42A>T
NM_000124.3:c.3983+42A>T	NP_000115.1:n.3983+42A>T
XR_945953.1:n.243-10255T>A
NM_001346440.1:c.3983+42A>T	NP_001333369.1:n.3983+42A>T
NM_000124.4:c.3983+42A>T MANE Select	NP_000115.1:n.3983+42A>T
NM_001346440.2:c.3983+42A>T	NP_001333369.1:n.3983+42A>T