Canonical Allele Identifier: CA376708024

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668426T>A (hg19) ; chr10:g.49460380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460380T>A , CM000672.2:g.49460380T>A	GRCh38
NC_000010.10:g.50668426T>A , CM000672.1:g.50668426T>A	GRCh37
NC_000010.9:g.50338432T>A	NCBI36
NG_009442.1:g.83722A>T , LRG_465:g.83722A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4055A>T MANE Select	ENSP00000348089.5:p.Lys1352Met
ENST00000679552.1:n.1126A>T
ENST00000679871.1:n.1201A>T
ENST00000679974.1:n.1104A>T
ENST00000681632.1:n.5458A>T
ENST00000681659.1:c.3896A>T	ENSP00000505631.1:p.Lys1299Met
ENST00000355832.9:c.4055A>T	ENSP00000348089.5:p.Lys1352Met
ENST00000465653.1:n.377A>T
ENST00000623073.3:c.*2351A>T	ENSP00000485650.1:n.*2351A>T
ENST00000623115.3:c.2165A>T	ENSP00000485321.1:p.Lys722Met
ENST00000624341.3:c.1887A>T
NM_000124.3:c.4055A>T	NP_000115.1:p.Lys1352Met
XR_945953.1:n.243-11185T>A
NM_001346440.1:c.4055A>T	NP_001333369.1:p.Lys1352Met
NM_000124.4:c.4055A>T MANE Select	NP_000115.1:p.Lys1352Met
NM_001346440.2:c.4055A>T	NP_001333369.1:p.Lys1352Met