Canonical Allele Identifier: CA2609136131

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461586-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461586T>A , CM000672.2:g.49461586T>A	GRCh38
NC_000010.10:g.50669632T>A , CM000672.1:g.50669632T>A	GRCh37
NC_000010.9:g.50339638T>A	NCBI36
NG_009442.1:g.82516A>T , LRG_465:g.82516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-30A>T MANE Select	ENSP00000348089.5:n.3779-30A>T
ENST00000679552.1:n.850-30A>T
ENST00000679871.1:n.925-30A>T
ENST00000679974.1:n.828-30A>T
ENST00000681632.1:n.5182-30A>T
ENST00000681659.1:c.3620-30A>T	ENSP00000505631.1:n.3620-30A>T
ENST00000355832.9:c.3779-30A>T	ENSP00000348089.5:n.3779-30A>T
ENST00000465653.1:n.101-30A>T
ENST00000623073.3:c.*2075-30A>T	ENSP00000485650.1:n.*2075-30A>T
ENST00000623115.3:c.1889-30A>T	ENSP00000485321.1:n.1889-30A>T
ENST00000624341.3:c.1611-30A>T
NM_000124.3:c.3779-30A>T	NP_000115.1:n.3779-30A>T
XR_945953.1:n.243-9979T>A
NM_001346440.1:c.3779-30A>T	NP_001333369.1:n.3779-30A>T
NM_000124.4:c.3779-30A>T MANE Select	NP_000115.1:n.3779-30A>T
NM_001346440.2:c.3779-30A>T	NP_001333369.1:n.3779-30A>T