Canonical Allele Identifier: CA5495468

Gene: ERCC6

Linked Data

• dbSNP Id: rs750751680
• ExAC: 10:50679193 T / A
• gnomAD v2: 10-50679193-T-A
• gnomAD v4: 10-49471147-T-A
• MyVariant Identifiers: chr10:g.50679193T>A (hg19) ; chr10:g.49471147T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471147T>A , CM000672.2:g.49471147T>A	GRCh38
NC_000010.10:g.50679193T>A , CM000672.1:g.50679193T>A	GRCh37
NC_000010.9:g.50349199T>A	NCBI36
NG_009442.1:g.72955A>T , LRG_465:g.72955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-27A>T MANE Select	ENSP00000348089.5:n.2925-27A>T
ENST00000679552.1:n.142-258A>T
ENST00000679871.1:n.71-27A>T
ENST00000679974.1:n.120-258A>T
ENST00000681632.1:n.4328-27A>T
ENST00000681659.1:c.2766-27A>T	ENSP00000505631.1:n.2766-27A>T
ENST00000355832.9:c.2925-27A>T	ENSP00000348089.5:n.2925-27A>T
ENST00000623073.3:c.*1221-27A>T	ENSP00000485650.1:n.*1221-27A>T
ENST00000623115.3:c.1035-27A>T	ENSP00000485321.1:n.1035-27A>T
ENST00000624341.3:c.757-27A>T
NM_000124.3:c.2925-27A>T	NP_000115.1:n.2925-27A>T
XR_945953.1:n.243-418T>A
NM_001346440.1:c.2925-27A>T	NP_001333369.1:n.2925-27A>T
NM_000124.4:c.2925-27A>T MANE Select	NP_000115.1:n.2925-27A>T
NM_001346440.2:c.2925-27A>T	NP_001333369.1:n.2925-27A>T