Canonical Allele Identifier: CA376717626

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679094A>C (hg19) ; chr10:g.49471048A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471048A>C , CM000672.2:g.49471048A>C	GRCh38
NC_000010.10:g.50679094A>C , CM000672.1:g.50679094A>C	GRCh37
NC_000010.9:g.50349100A>C	NCBI36
NG_009442.1:g.73054T>G , LRG_465:g.73054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2997T>G MANE Select	ENSP00000348089.5:p.Asn999Lys
ENST00000679552.1:n.142-159T>G
ENST00000679871.1:n.143T>G
ENST00000679974.1:n.120-159T>G
ENST00000681632.1:n.4400T>G
ENST00000681659.1:c.2838T>G	ENSP00000505631.1:p.Asn946Lys
ENST00000355832.9:c.2997T>G	ENSP00000348089.5:p.Asn999Lys
ENST00000623073.3:c.*1293T>G	ENSP00000485650.1:n.*1293T>G
ENST00000623115.3:c.1107T>G	ENSP00000485321.1:p.Asn369Lys
ENST00000624341.3:c.829T>G
NM_000124.3:c.2997T>G	NP_000115.1:p.Asn999Lys
XR_945953.1:n.243-517A>C
NM_001346440.1:c.2997T>G	NP_001333369.1:p.Asn999Lys
NM_000124.4:c.2997T>G MANE Select	NP_000115.1:p.Asn999Lys
NM_001346440.2:c.2997T>G	NP_001333369.1:p.Asn999Lys