Canonical Allele Identifier: CA376714203

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850755517
• gnomAD v4: 10-49470448-T-G
• MyVariant Identifiers: chr10:g.50678494T>G (hg19) ; chr10:g.49470448T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470448T>G , CM000672.2:g.49470448T>G	GRCh38
NC_000010.10:g.50678494T>G , CM000672.1:g.50678494T>G	GRCh37
NC_000010.9:g.50348500T>G	NCBI36
NG_009442.1:g.73654A>C , LRG_465:g.73654A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3512A>C MANE Select	ENSP00000348089.5:p.Asn1171Thr
ENST00000679552.1:n.583A>C
ENST00000679871.1:n.658A>C
ENST00000679974.1:n.561A>C
ENST00000681632.1:n.4915A>C
ENST00000681659.1:c.3353A>C	ENSP00000505631.1:p.Asn1118Thr
ENST00000355832.9:c.3512A>C	ENSP00000348089.5:p.Asn1171Thr
ENST00000623073.3:c.*1808A>C	ENSP00000485650.1:n.*1808A>C
ENST00000623115.3:c.1622A>C	ENSP00000485321.1:p.Asn541Thr
ENST00000624341.3:c.1344A>C
NM_000124.3:c.3512A>C	NP_000115.1:p.Asn1171Thr
XR_945953.1:n.243-1117T>G
NM_001346440.1:c.3512A>C	NP_001333369.1:p.Asn1171Thr
NM_000124.4:c.3512A>C MANE Select	NP_000115.1:p.Asn1171Thr
NM_001346440.2:c.3512A>C	NP_001333369.1:p.Asn1171Thr