Canonical Allele Identifier: CA376708432

Gene: ERCC6

Linked Data

• dbSNP Id: rs1477858337
• gnomAD v2: 10-50669521-T-A
• gnomAD v3: 10-49461475-T-A
• gnomAD v4: 10-49461475-T-A
• MyVariant Identifiers: chr10:g.50669521T>A (hg19) ; chr10:g.49461475T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461475T>A , CM000672.2:g.49461475T>A	GRCh38
NC_000010.10:g.50669521T>A , CM000672.1:g.50669521T>A	GRCh37
NC_000010.9:g.50339527T>A	NCBI36
NG_009442.1:g.82627A>T , LRG_465:g.82627A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3860A>T MANE Select	ENSP00000348089.5:p.Asn1287Ile
ENST00000679552.1:n.931A>T
ENST00000679871.1:n.1006A>T
ENST00000679974.1:n.909A>T
ENST00000681632.1:n.5263A>T
ENST00000681659.1:c.3701A>T	ENSP00000505631.1:p.Asn1234Ile
ENST00000355832.9:c.3860A>T	ENSP00000348089.5:p.Asn1287Ile
ENST00000465653.1:n.182A>T
ENST00000623073.3:c.*2156A>T	ENSP00000485650.1:n.*2156A>T
ENST00000623115.3:c.1970A>T	ENSP00000485321.1:p.Asn657Ile
ENST00000624341.3:c.1692A>T
NM_000124.3:c.3860A>T	NP_000115.1:p.Asn1287Ile
XR_945953.1:n.243-10090T>A
NM_001346440.1:c.3860A>T	NP_001333369.1:p.Asn1287Ile
NM_000124.4:c.3860A>T MANE Select	NP_000115.1:p.Asn1287Ile
NM_001346440.2:c.3860A>T	NP_001333369.1:p.Asn1287Ile