Canonical Allele Identifier: CA5495507

Gene: ERCC6

Linked Data

• dbSNP Id: rs759987640
• ExAC: 10:50680544 A / G
• gnomAD v2: 10-50680544-A-G
• gnomAD v3: 10-49472498-A-G
• gnomAD v4: 10-49472498-A-G
• MyVariant Identifiers: chr10:g.50680544A>G (hg19) ; chr10:g.49472498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472498A>G , CM000672.2:g.49472498A>G	GRCh38
NC_000010.10:g.50680544A>G , CM000672.1:g.50680544A>G	GRCh37
NC_000010.9:g.50350550A>G	NCBI36
NG_009442.1:g.71604T>C , LRG_465:g.71604T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-28T>C MANE Select	ENSP00000348089.5:n.2830-28T>C
ENST00000681632.1:n.4205T>C
ENST00000681659.1:c.2671-28T>C	ENSP00000505631.1:n.2671-28T>C
ENST00000355832.9:c.2830-28T>C	ENSP00000348089.5:n.2830-28T>C
ENST00000623073.3:c.*1126-28T>C	ENSP00000485650.1:n.*1126-28T>C
ENST00000623115.3:c.940-28T>C	ENSP00000485321.1:n.940-28T>C
ENST00000624341.3:c.662-28T>C
NM_000124.3:c.2830-28T>C	NP_000115.1:n.2830-28T>C
XR_945953.1:n.690-205A>G
NM_001346440.1:c.2830-28T>C	NP_001333369.1:n.2830-28T>C
NM_000124.4:c.2830-28T>C MANE Select	NP_000115.1:n.2830-28T>C
NM_001346440.2:c.2830-28T>C	NP_001333369.1:n.2830-28T>C