Canonical Allele Identifier: CA376718375

Gene: ERCC6

Linked Data

• dbSNP Id: rs1341106554
• gnomAD v2: 10-50680432-T-A
• gnomAD v4: 10-49472386-T-A
• MyVariant Identifiers: chr10:g.50680432T>A (hg19) ; chr10:g.49472386T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472386T>A , CM000672.2:g.49472386T>A	GRCh38
NC_000010.10:g.50680432T>A , CM000672.1:g.50680432T>A	GRCh37
NC_000010.9:g.50350438T>A	NCBI36
NG_009442.1:g.71716A>T , LRG_465:g.71716A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2914A>T MANE Select	ENSP00000348089.5:p.Ile972Phe
ENST00000681632.1:n.4317A>T
ENST00000681659.1:c.2755A>T	ENSP00000505631.1:p.Ile919Phe
ENST00000355832.9:c.2914A>T	ENSP00000348089.5:p.Ile972Phe
ENST00000623073.3:c.*1210A>T	ENSP00000485650.1:n.*1210A>T
ENST00000623115.3:c.1024A>T	ENSP00000485321.1:p.Ile342Phe
ENST00000624341.3:c.746A>T
NM_000124.3:c.2914A>T	NP_000115.1:p.Ile972Phe
XR_945953.1:n.690-317T>A
NM_001346440.1:c.2914A>T	NP_001333369.1:p.Ile972Phe
NM_000124.4:c.2914A>T MANE Select	NP_000115.1:p.Ile972Phe
NM_001346440.2:c.2914A>T	NP_001333369.1:p.Ile972Phe