Canonical Allele Identifier: CA206616419

Gene: ERCC6

Linked Data

• dbSNP Id: rs566754675
• gnomAD v2: 10-50722763-C-T
• gnomAD v3: 10-49514717-C-T
• gnomAD v4: 10-49514717-C-T
• MyVariant Identifiers: chr10:g.50722763C>T (hg19) ; chr10:g.49514717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514717C>T , CM000672.2:g.49514717C>T	GRCh38
NC_000010.10:g.50722763C>T , CM000672.1:g.50722763C>T	GRCh37
NC_000010.9:g.50392769C>T	NCBI36
NG_009442.1:g.29385G>A , LRG_465:g.29385G>A
NG_033155.1:g.14565G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8705G>A MANE Select	ENSP00000348089.5:n.1398-8705G>A
ENST00000679811.1:n.1481-8705G>A
ENST00000680107.1:c.*2382G>A	ENSP00000505909.1:n.*2382G>A
ENST00000681632.1:n.1476-8705G>A
ENST00000681659.1:c.1398-8705G>A	ENSP00000505631.1:n.1398-8705G>A
ENST00000355832.9:c.1398-8705G>A	ENSP00000348089.5:n.1398-8705G>A
NM_000124.3:c.1398-8705G>A	NP_000115.1:n.1398-8705G>A
NM_001346440.1:c.1398-8705G>A	NP_001333369.1:n.1398-8705G>A
NM_000124.4:c.1398-8705G>A MANE Select	NP_000115.1:n.1398-8705G>A
NM_001346440.2:c.1398-8705G>A	NP_001333369.1:n.1398-8705G>A