Canonical Allele Identifier: CA376708728

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669582T>A (hg19) ; chr10:g.49461536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461536T>A , CM000672.2:g.49461536T>A	GRCh38
NC_000010.10:g.50669582T>A , CM000672.1:g.50669582T>A	GRCh37
NC_000010.9:g.50339588T>A	NCBI36
NG_009442.1:g.82566A>T , LRG_465:g.82566A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3799A>T MANE Select	ENSP00000348089.5:p.Lys1267Ter
ENST00000679552.1:n.870A>T
ENST00000679871.1:n.945A>T
ENST00000679974.1:n.848A>T
ENST00000681632.1:n.5202A>T
ENST00000681659.1:c.3640A>T	ENSP00000505631.1:p.Lys1214Ter
ENST00000355832.9:c.3799A>T	ENSP00000348089.5:p.Lys1267Ter
ENST00000465653.1:n.121A>T
ENST00000623073.3:c.*2095A>T	ENSP00000485650.1:n.*2095A>T
ENST00000623115.3:c.1909A>T	ENSP00000485321.1:p.Lys637Ter
ENST00000624341.3:c.1631A>T
NM_000124.3:c.3799A>T	NP_000115.1:p.Lys1267Ter
XR_945953.1:n.243-10029T>A
NM_001346440.1:c.3799A>T	NP_001333369.1:p.Lys1267Ter
NM_000124.4:c.3799A>T MANE Select	NP_000115.1:p.Lys1267Ter
NM_001346440.2:c.3799A>T	NP_001333369.1:p.Lys1267Ter