Canonical Allele Identifier: CA376729686

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49505894T>A , CM000672.2:g.49505894T>A	GRCh38
NC_000010.10:g.50713940T>A , CM000672.1:g.50713940T>A	GRCh37
NC_000010.9:g.50383946T>A	NCBI36
NG_009442.1:g.38208A>T , LRG_465:g.38208A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1516A>T MANE Select	NP_000115.1:p.Lys506Ter
ENST00000355832.10:c.1516A>T MANE Select	ENSP00000348089.5:p.Lys506Ter
NM_000124.3:c.1516A>T	NP_000115.1:p.Lys506Ter
NM_001346440.1:c.1516A>T	NP_001333369.1:p.Lys506Ter
NM_001346440.2:c.1516A>T	NP_001333369.1:p.Lys506Ter
ENST00000355832.9:c.1516A>T	ENSP00000348089.5:p.Lys506Ter
ENST00000475116.1:n.106A>T
ENST00000623073.3:c.-5271A>T	ENSP00000485650.1:n.-5271A>T
ENST00000623788.1:n.515A>T
ENST00000679811.1:n.1599A>T
ENST00000681632.1:n.1594A>T
ENST00000681659.1:c.1516A>T	ENSP00000505631.1:p.Lys506Ter