Canonical Allele Identifier: CA376712352

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470196A>G , CM000672.2:g.49470196A>G	GRCh38
NC_000010.10:g.50678242A>G , CM000672.1:g.50678242A>G	GRCh37
NC_000010.9:g.50348248A>G	NCBI36
NG_009442.1:g.73906T>C , LRG_465:g.73906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3764T>C MANE Select	ENSP00000348089.5:p.Leu1255Pro
ENST00000679552.1:n.835T>C
ENST00000679871.1:n.910T>C
ENST00000679974.1:n.813T>C
ENST00000681632.1:n.5167T>C
ENST00000681659.1:c.3605T>C	ENSP00000505631.1:p.Leu1202Pro
ENST00000355832.9:c.3764T>C	ENSP00000348089.5:p.Leu1255Pro
ENST00000465653.1:n.86T>C
ENST00000623073.3:c.*2060T>C	ENSP00000485650.1:n.*2060T>C
ENST00000623115.3:c.1874T>C	ENSP00000485321.1:p.Leu625Pro
ENST00000624341.3:c.1596T>C
NM_000124.3:c.3764T>C	NP_000115.1:p.Leu1255Pro
XR_945953.1:n.243-1369A>G
NM_001346440.1:c.3764T>C	NP_001333369.1:p.Leu1255Pro
NM_000124.4:c.3764T>C MANE Select	NP_000115.1:p.Leu1255Pro
NM_001346440.2:c.3764T>C	NP_001333369.1:p.Leu1255Pro