Canonical Allele Identifier: CA206616448

Gene: ERCC6

Linked Data

• dbSNP Id: rs533122882
• gnomAD v2: 10-50722861-C-G
• gnomAD v3: 10-49514815-C-G
• gnomAD v4: 10-49514815-C-G
• MyVariant Identifiers: chr10:g.50722861C>G (hg19) ; chr10:g.49514815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514815C>G , CM000672.2:g.49514815C>G	GRCh38
NC_000010.10:g.50722861C>G , CM000672.1:g.50722861C>G	GRCh37
NC_000010.9:g.50392867C>G	NCBI36
NG_009442.1:g.29287G>C , LRG_465:g.29287G>C
NG_033155.1:g.14467G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8803G>C MANE Select	ENSP00000348089.5:n.1398-8803G>C
ENST00000679811.1:n.1481-8803G>C
ENST00000680107.1:c.*2284G>C	ENSP00000505909.1:n.*2284G>C
ENST00000681632.1:n.1476-8803G>C
ENST00000681659.1:c.1398-8803G>C	ENSP00000505631.1:n.1398-8803G>C
ENST00000355832.9:c.1398-8803G>C	ENSP00000348089.5:n.1398-8803G>C
NM_000124.3:c.1398-8803G>C	NP_000115.1:n.1398-8803G>C
NM_001346440.1:c.1398-8803G>C	NP_001333369.1:n.1398-8803G>C
NM_000124.4:c.1398-8803G>C MANE Select	NP_000115.1:n.1398-8803G>C
NM_001346440.2:c.1398-8803G>C	NP_001333369.1:n.1398-8803G>C