Canonical Allele Identifier: CA376717429

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850769649
• gnomAD v3: 10-49471007-G-A
• gnomAD v4: 10-49471007-G-A
• MyVariant Identifiers: chr10:g.50679053G>A (hg19) ; chr10:g.49471007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471007G>A , CM000672.2:g.49471007G>A	GRCh38
NC_000010.10:g.50679053G>A , CM000672.1:g.50679053G>A	GRCh37
NC_000010.9:g.50349059G>A	NCBI36
NG_009442.1:g.73095C>T , LRG_465:g.73095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3038C>T MANE Select	ENSP00000348089.5:p.Ser1013Phe
ENST00000679552.1:n.142-118C>T
ENST00000679871.1:n.184C>T
ENST00000679974.1:n.120-118C>T
ENST00000681632.1:n.4441C>T
ENST00000681659.1:c.2879C>T	ENSP00000505631.1:p.Ser960Phe
ENST00000355832.9:c.3038C>T	ENSP00000348089.5:p.Ser1013Phe
ENST00000623073.3:c.*1334C>T	ENSP00000485650.1:n.*1334C>T
ENST00000623115.3:c.1148C>T	ENSP00000485321.1:p.Ser383Phe
ENST00000624341.3:c.870C>T
NM_000124.3:c.3038C>T	NP_000115.1:p.Ser1013Phe
XR_945953.1:n.243-558G>A
NM_001346440.1:c.3038C>T	NP_001333369.1:p.Ser1013Phe
NM_000124.4:c.3038C>T MANE Select	NP_000115.1:p.Ser1013Phe
NM_001346440.2:c.3038C>T	NP_001333369.1:p.Ser1013Phe