Canonical Allele Identifier: CA376754011

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732560C>G (hg19) ; chr10:g.49524514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524514C>G , CM000672.2:g.49524514C>G	GRCh38
NC_000010.10:g.50732560C>G , CM000672.1:g.50732560C>G	GRCh37
NC_000010.9:g.50402566C>G	NCBI36
NG_009442.1:g.19588G>C , LRG_465:g.19588G>C
NG_033155.1:g.4768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.916G>C MANE Select	ENSP00000348089.5:p.Ala306Pro
ENST00000447839.7:c.916G>C MANE Plus Clinical	ENSP00000387966.2:p.Ala306Pro
ENST00000679596.1:c.*545G>C	ENSP00000504862.1:n.*545G>C
ENST00000679811.1:n.999G>C
ENST00000680107.1:c.652+3903G>C	ENSP00000505909.1:n.652+3903G>C
ENST00000680233.1:n.1009G>C
ENST00000681632.1:n.994G>C
ENST00000681659.1:c.916G>C	ENSP00000505631.1:p.Ala306Pro
ENST00000355832.9:c.916G>C	ENSP00000348089.5:p.Ala306Pro
ENST00000447839.6:c.916G>C	ENSP00000387966.2:p.Ala306Pro
ENST00000515869.1:c.916G>C	ENSP00000423550.1:p.Ala306Pro
NM_000124.3:c.916G>C	NP_000115.1:p.Ala306Pro
NM_001277058.1:c.916G>C	NP_001263987.1:p.Ala306Pro
NM_001277059.1:c.916G>C	NP_001263988.1:p.Ala306Pro
NM_001346440.1:c.916G>C	NP_001333369.1:p.Ala306Pro
NM_000124.4:c.916G>C MANE Select	NP_000115.1:p.Ala306Pro
NM_001277058.2:c.916G>C MANE Plus Clinical	NP_001263987.1:p.Ala306Pro
NM_001277059.2:c.916G>C	NP_001263988.1:p.Ala306Pro
NM_001346440.2:c.916G>C	NP_001333369.1:p.Ala306Pro