Canonical Allele Identifier: CA5495415

Gene: ERCC6

Linked Data

• dbSNP Id: rs747223564
• ExAC: 10:50678915 T / A
• gnomAD v2: 10-50678915-T-A
• gnomAD v4: 10-49470869-T-A
• MyVariant Identifiers: chr10:g.50678915T>A (hg19) ; chr10:g.49470869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470869T>A , CM000672.2:g.49470869T>A	GRCh38
NC_000010.10:g.50678915T>A , CM000672.1:g.50678915T>A	GRCh37
NC_000010.9:g.50348921T>A	NCBI36
NG_009442.1:g.73233A>T , LRG_465:g.73233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3091A>T MANE Select	ENSP00000348089.5:p.Thr1031Ser
ENST00000679552.1:n.162A>T
ENST00000679871.1:n.237A>T
ENST00000679974.1:n.140A>T
ENST00000681632.1:n.4494A>T
ENST00000681659.1:c.2932A>T	ENSP00000505631.1:p.Thr978Ser
ENST00000355832.9:c.3091A>T	ENSP00000348089.5:p.Thr1031Ser
ENST00000623073.3:c.*1387A>T	ENSP00000485650.1:n.*1387A>T
ENST00000623115.3:c.1201A>T	ENSP00000485321.1:p.Thr401Ser
ENST00000624341.3:c.923A>T
NM_000124.3:c.3091A>T	NP_000115.1:p.Thr1031Ser
XR_945953.1:n.243-696T>A
NM_001346440.1:c.3091A>T	NP_001333369.1:p.Thr1031Ser
NM_000124.4:c.3091A>T MANE Select	NP_000115.1:p.Thr1031Ser
NM_001346440.2:c.3091A>T	NP_001333369.1:p.Thr1031Ser