Canonical Allele Identifier: CA376724485

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690903T>A (hg19) ; chr10:g.49482857T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482857T>A , CM000672.2:g.49482857T>A	GRCh38
NC_000010.10:g.50690903T>A , CM000672.1:g.50690903T>A	GRCh37
NC_000010.9:g.50360909T>A	NCBI36
NG_009442.1:g.61245A>T , LRG_465:g.61245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1999A>T MANE Select	ENSP00000348089.5:p.Thr667Ser
ENST00000681632.1:n.2077A>T
ENST00000681659.1:c.1840A>T	ENSP00000505631.1:p.Thr614Ser
ENST00000355832.9:c.1999A>T	ENSP00000348089.5:p.Thr667Ser
ENST00000623073.3:c.*391A>T	ENSP00000485650.1:n.*391A>T
ENST00000623115.3:c.109A>T	ENSP00000485321.1:p.Thr37Ser
NM_000124.3:c.1999A>T	NP_000115.1:p.Thr667Ser
NM_001346440.1:c.1999A>T	NP_001333369.1:p.Thr667Ser
NM_000124.4:c.1999A>T MANE Select	NP_000115.1:p.Thr667Ser
NM_001346440.2:c.1999A>T	NP_001333369.1:p.Thr667Ser