Canonical Allele Identifier: CA376755126

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732734A>G (hg19) ; chr10:g.49524688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524688A>G , CM000672.2:g.49524688A>G	GRCh38
NC_000010.10:g.50732734A>G , CM000672.1:g.50732734A>G	GRCh37
NC_000010.9:g.50402740A>G	NCBI36
NG_009442.1:g.19414T>C , LRG_465:g.19414T>C
NG_033155.1:g.4594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.742T>C MANE Select	ENSP00000348089.5:p.Phe248Leu
ENST00000447839.7:c.742T>C MANE Plus Clinical	ENSP00000387966.2:p.Phe248Leu
ENST00000679596.1:c.*371T>C	ENSP00000504862.1:n.*371T>C
ENST00000679811.1:n.825T>C
ENST00000680107.1:c.652+3729T>C	ENSP00000505909.1:n.652+3729T>C
ENST00000680233.1:n.835T>C
ENST00000681632.1:n.820T>C
ENST00000681659.1:c.742T>C	ENSP00000505631.1:p.Phe248Leu
ENST00000355832.9:c.742T>C	ENSP00000348089.5:p.Phe248Leu
ENST00000447839.6:c.742T>C	ENSP00000387966.2:p.Phe248Leu
ENST00000515869.1:c.742T>C	ENSP00000423550.1:p.Phe248Leu
NM_000124.3:c.742T>C	NP_000115.1:p.Phe248Leu
NM_001277058.1:c.742T>C	NP_001263987.1:p.Phe248Leu
NM_001277059.1:c.742T>C	NP_001263988.1:p.Phe248Leu
NM_001346440.1:c.742T>C	NP_001333369.1:p.Phe248Leu
NM_000124.4:c.742T>C MANE Select	NP_000115.1:p.Phe248Leu
NM_001277058.2:c.742T>C MANE Plus Clinical	NP_001263987.1:p.Phe248Leu
NM_001277059.2:c.742T>C	NP_001263988.1:p.Phe248Leu
NM_001346440.2:c.742T>C	NP_001333369.1:p.Phe248Leu