Canonical Allele Identifier: CA5496445

Gene: ERCC6

Linked Data

• dbSNP Id: rs758688919
• ExAC: 10:50732728 T / A
• gnomAD v4: 10-49524682-T-A
• MyVariant Identifiers: chr10:g.50732728T>A (hg19) ; chr10:g.49524682T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524682T>A , CM000672.2:g.49524682T>A	GRCh38
NC_000010.10:g.50732728T>A , CM000672.1:g.50732728T>A	GRCh37
NC_000010.9:g.50402734T>A	NCBI36
NG_009442.1:g.19420A>T , LRG_465:g.19420A>T
NG_033155.1:g.4600A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.748A>T MANE Select	ENSP00000348089.5:p.Thr250Ser
ENST00000447839.7:c.748A>T MANE Plus Clinical	ENSP00000387966.2:p.Thr250Ser
ENST00000679596.1:c.*377A>T	ENSP00000504862.1:n.*377A>T
ENST00000679811.1:n.831A>T
ENST00000680107.1:c.652+3735A>T	ENSP00000505909.1:n.652+3735A>T
ENST00000680233.1:n.841A>T
ENST00000681632.1:n.826A>T
ENST00000681659.1:c.748A>T	ENSP00000505631.1:p.Thr250Ser
ENST00000355832.9:c.748A>T	ENSP00000348089.5:p.Thr250Ser
ENST00000447839.6:c.748A>T	ENSP00000387966.2:p.Thr250Ser
ENST00000515869.1:c.748A>T	ENSP00000423550.1:p.Thr250Ser
NM_000124.3:c.748A>T	NP_000115.1:p.Thr250Ser
NM_001277058.1:c.748A>T	NP_001263987.1:p.Thr250Ser
NM_001277059.1:c.748A>T	NP_001263988.1:p.Thr250Ser
NM_001346440.1:c.748A>T	NP_001333369.1:p.Thr250Ser
NM_000124.4:c.748A>T MANE Select	NP_000115.1:p.Thr250Ser
NM_001277058.2:c.748A>T MANE Plus Clinical	NP_001263987.1:p.Thr250Ser
NM_001277059.2:c.748A>T	NP_001263988.1:p.Thr250Ser
NM_001346440.2:c.748A>T	NP_001333369.1:p.Thr250Ser