Canonical Allele Identifier: CA376717094

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678907T>G (hg19) ; chr10:g.49470861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470861T>G , CM000672.2:g.49470861T>G	GRCh38
NC_000010.10:g.50678907T>G , CM000672.1:g.50678907T>G	GRCh37
NC_000010.9:g.50348913T>G	NCBI36
NG_009442.1:g.73241A>C , LRG_465:g.73241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3099A>C MANE Select	ENSP00000348089.5:p.Lys1033Asn
ENST00000679552.1:n.170A>C
ENST00000679871.1:n.245A>C
ENST00000679974.1:n.148A>C
ENST00000681632.1:n.4502A>C
ENST00000681659.1:c.2940A>C	ENSP00000505631.1:p.Lys980Asn
ENST00000355832.9:c.3099A>C	ENSP00000348089.5:p.Lys1033Asn
ENST00000623073.3:c.*1395A>C	ENSP00000485650.1:n.*1395A>C
ENST00000623115.3:c.1209A>C	ENSP00000485321.1:p.Lys403Asn
ENST00000624341.3:c.931A>C
NM_000124.3:c.3099A>C	NP_000115.1:p.Lys1033Asn
XR_945953.1:n.243-704T>G
NM_001346440.1:c.3099A>C	NP_001333369.1:p.Lys1033Asn
NM_000124.4:c.3099A>C MANE Select	NP_000115.1:p.Lys1033Asn
NM_001346440.2:c.3099A>C	NP_001333369.1:p.Lys1033Asn