Canonical Allele Identifier: CA376708441

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669522T>G (hg19) ; chr10:g.49461476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461476T>G , CM000672.2:g.49461476T>G	GRCh38
NC_000010.10:g.50669522T>G , CM000672.1:g.50669522T>G	GRCh37
NC_000010.9:g.50339528T>G	NCBI36
NG_009442.1:g.82626A>C , LRG_465:g.82626A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3859A>C MANE Select	ENSP00000348089.5:p.Asn1287His
ENST00000679552.1:n.930A>C
ENST00000679871.1:n.1005A>C
ENST00000679974.1:n.908A>C
ENST00000681632.1:n.5262A>C
ENST00000681659.1:c.3700A>C	ENSP00000505631.1:p.Asn1234His
ENST00000355832.9:c.3859A>C	ENSP00000348089.5:p.Asn1287His
ENST00000465653.1:n.181A>C
ENST00000623073.3:c.*2155A>C	ENSP00000485650.1:n.*2155A>C
ENST00000623115.3:c.1969A>C	ENSP00000485321.1:p.Asn657His
ENST00000624341.3:c.1691A>C
NM_000124.3:c.3859A>C	NP_000115.1:p.Asn1287His
XR_945953.1:n.243-10089T>G
NM_001346440.1:c.3859A>C	NP_001333369.1:p.Asn1287His
NM_000124.4:c.3859A>C MANE Select	NP_000115.1:p.Asn1287His
NM_001346440.2:c.3859A>C	NP_001333369.1:p.Asn1287His