Canonical Allele Identifier: CA469790500

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732594T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524548T>G , CM000672.2:g.49524548T>G	GRCh38
NC_000010.10:g.50732594T>G , CM000672.1:g.50732594T>G	GRCh37
NC_000010.9:g.50402600T>G	NCBI36
NG_009442.1:g.19554A>C , LRG_465:g.19554A>C
NG_033155.1:g.4734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.882A>C MANE Select	ENSP00000348089.5:p.Ala294=
ENST00000447839.7:c.882A>C MANE Plus Clinical	ENSP00000387966.2:p.Ala294=
ENST00000679596.1:c.*511A>C	ENSP00000504862.1:n.*511A>C
ENST00000679811.1:n.965A>C
ENST00000680107.1:c.652+3869A>C	ENSP00000505909.1:n.652+3869A>C
ENST00000680233.1:n.975A>C
ENST00000681632.1:n.960A>C
ENST00000681659.1:c.882A>C	ENSP00000505631.1:p.Ala294=
ENST00000355832.9:c.882A>C	ENSP00000348089.5:p.Ala294=
ENST00000447839.6:c.882A>C	ENSP00000387966.2:p.Ala294=
ENST00000515869.1:c.882A>C	ENSP00000423550.1:p.Ala294=
NM_000124.3:c.882A>C	NP_000115.1:p.Ala294=
NM_001277058.1:c.882A>C	NP_001263987.1:p.Ala294=
NM_001277059.1:c.882A>C	NP_001263988.1:p.Ala294=
NM_001346440.1:c.882A>C	NP_001333369.1:p.Ala294=
NM_000124.4:c.882A>C MANE Select	NP_000115.1:p.Ala294=
NM_001277058.2:c.882A>C MANE Plus Clinical	NP_001263987.1:p.Ala294=
NM_001277059.2:c.882A>C	NP_001263988.1:p.Ala294=
NM_001346440.2:c.882A>C	NP_001333369.1:p.Ala294=