Canonical Allele Identifier: CA376717111

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678912G>A (hg19) ; chr10:g.49470866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470866G>A , CM000672.2:g.49470866G>A	GRCh38
NC_000010.10:g.50678912G>A , CM000672.1:g.50678912G>A	GRCh37
NC_000010.9:g.50348918G>A	NCBI36
NG_009442.1:g.73236C>T , LRG_465:g.73236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3094C>T MANE Select	ENSP00000348089.5:p.Pro1032Ser
ENST00000679552.1:n.165C>T
ENST00000679871.1:n.240C>T
ENST00000679974.1:n.143C>T
ENST00000681632.1:n.4497C>T
ENST00000681659.1:c.2935C>T	ENSP00000505631.1:p.Pro979Ser
ENST00000355832.9:c.3094C>T	ENSP00000348089.5:p.Pro1032Ser
ENST00000623073.3:c.*1390C>T	ENSP00000485650.1:n.*1390C>T
ENST00000623115.3:c.1204C>T	ENSP00000485321.1:p.Pro402Ser
ENST00000624341.3:c.926C>T
NM_000124.3:c.3094C>T	NP_000115.1:p.Pro1032Ser
XR_945953.1:n.243-699G>A
NM_001346440.1:c.3094C>T	NP_001333369.1:p.Pro1032Ser
NM_000124.4:c.3094C>T MANE Select	NP_000115.1:p.Pro1032Ser
NM_001346440.2:c.3094C>T	NP_001333369.1:p.Pro1032Ser