Canonical Allele Identifier: CA5495381

Gene: ERCC6

Linked Data

• dbSNP Id: rs761638923
• ExAC: 10:50678749 T / C
• gnomAD v2: 10-50678749-T-C
• gnomAD v4: 10-49470703-T-C
• MyVariant Identifiers: chr10:g.50678749T>C (hg19) ; chr10:g.49470703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470703T>C , CM000672.2:g.49470703T>C	GRCh38
NC_000010.10:g.50678749T>C , CM000672.1:g.50678749T>C	GRCh37
NC_000010.9:g.50348755T>C	NCBI36
NG_009442.1:g.73399A>G , LRG_465:g.73399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3257A>G MANE Select	ENSP00000348089.5:p.Asn1086Ser
ENST00000679552.1:n.328A>G
ENST00000679871.1:n.403A>G
ENST00000679974.1:n.306A>G
ENST00000681632.1:n.4660A>G
ENST00000681659.1:c.3098A>G	ENSP00000505631.1:p.Asn1033Ser
ENST00000355832.9:c.3257A>G	ENSP00000348089.5:p.Asn1086Ser
ENST00000623073.3:c.*1553A>G	ENSP00000485650.1:n.*1553A>G
ENST00000623115.3:c.1367A>G	ENSP00000485321.1:p.Asn456Ser
ENST00000624341.3:c.1089A>G
NM_000124.3:c.3257A>G	NP_000115.1:p.Asn1086Ser
XR_945953.1:n.243-862T>C
NM_001346440.1:c.3257A>G	NP_001333369.1:p.Asn1086Ser
NM_000124.4:c.3257A>G MANE Select	NP_000115.1:p.Asn1086Ser
NM_001346440.2:c.3257A>G	NP_001333369.1:p.Asn1086Ser