Canonical Allele Identifier: CA469788655

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678555A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470509A>G , CM000672.2:g.49470509A>G	GRCh38
NC_000010.10:g.50678555A>G , CM000672.1:g.50678555A>G	GRCh37
NC_000010.9:g.50348561A>G	NCBI36
NG_009442.1:g.73593T>C , LRG_465:g.73593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3451T>C MANE Select	ENSP00000348089.5:p.Leu1151=
ENST00000679552.1:n.522T>C
ENST00000679871.1:n.597T>C
ENST00000679974.1:n.500T>C
ENST00000681632.1:n.4854T>C
ENST00000681659.1:c.3292T>C	ENSP00000505631.1:p.Leu1098=
ENST00000355832.9:c.3451T>C	ENSP00000348089.5:p.Leu1151=
ENST00000623073.3:c.*1747T>C	ENSP00000485650.1:n.*1747T>C
ENST00000623115.3:c.1561T>C	ENSP00000485321.1:p.Leu521=
ENST00000624341.3:c.1283T>C
NM_000124.3:c.3451T>C	NP_000115.1:p.Leu1151=
XR_945953.1:n.243-1056A>G
NM_001346440.1:c.3451T>C	NP_001333369.1:p.Leu1151=
NM_000124.4:c.3451T>C MANE Select	NP_000115.1:p.Leu1151=
NM_001346440.2:c.3451T>C	NP_001333369.1:p.Leu1151=