Canonical Allele Identifier: CA376714282

Gene: ERCC6

Linked Data

• dbSNP Id: rs1590405588
• gnomAD v3: 10-49470458-A-C
• gnomAD v4: 10-49470458-A-C
• MyVariant Identifiers: chr10:g.50678504A>C (hg19) ; chr10:g.49470458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470458A>C , CM000672.2:g.49470458A>C	GRCh38
NC_000010.10:g.50678504A>C , CM000672.1:g.50678504A>C	GRCh37
NC_000010.9:g.50348510A>C	NCBI36
NG_009442.1:g.73644T>G , LRG_465:g.73644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3502T>G MANE Select	ENSP00000348089.5:p.Phe1168Val
ENST00000679552.1:n.573T>G
ENST00000679871.1:n.648T>G
ENST00000679974.1:n.551T>G
ENST00000681632.1:n.4905T>G
ENST00000681659.1:c.3343T>G	ENSP00000505631.1:p.Phe1115Val
ENST00000355832.9:c.3502T>G	ENSP00000348089.5:p.Phe1168Val
ENST00000623073.3:c.*1798T>G	ENSP00000485650.1:n.*1798T>G
ENST00000623115.3:c.1612T>G	ENSP00000485321.1:p.Phe538Val
ENST00000624341.3:c.1334T>G
NM_000124.3:c.3502T>G	NP_000115.1:p.Phe1168Val
XR_945953.1:n.243-1107A>C
NM_001346440.1:c.3502T>G	NP_001333369.1:p.Phe1168Val
NM_000124.4:c.3502T>G MANE Select	NP_000115.1:p.Phe1168Val
NM_001346440.2:c.3502T>G	NP_001333369.1:p.Phe1168Val