Canonical Allele Identifier: CA376708649

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669567T>G (hg19) ; chr10:g.49461521T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461521T>G , CM000672.2:g.49461521T>G	GRCh38
NC_000010.10:g.50669567T>G , CM000672.1:g.50669567T>G	GRCh37
NC_000010.9:g.50339573T>G	NCBI36
NG_009442.1:g.82581A>C , LRG_465:g.82581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3814A>C MANE Select	ENSP00000348089.5:p.Met1272Leu
ENST00000679552.1:n.885A>C
ENST00000679871.1:n.960A>C
ENST00000679974.1:n.863A>C
ENST00000681632.1:n.5217A>C
ENST00000681659.1:c.3655A>C	ENSP00000505631.1:p.Met1219Leu
ENST00000355832.9:c.3814A>C	ENSP00000348089.5:p.Met1272Leu
ENST00000465653.1:n.136A>C
ENST00000623073.3:c.*2110A>C	ENSP00000485650.1:n.*2110A>C
ENST00000623115.3:c.1924A>C	ENSP00000485321.1:p.Met642Leu
ENST00000624341.3:c.1646A>C
NM_000124.3:c.3814A>C	NP_000115.1:p.Met1272Leu
XR_945953.1:n.243-10044T>G
NM_001346440.1:c.3814A>C	NP_001333369.1:p.Met1272Leu
NM_000124.4:c.3814A>C MANE Select	NP_000115.1:p.Met1272Leu
NM_001346440.2:c.3814A>C	NP_001333369.1:p.Met1272Leu