Canonical Allele Identifier: CA376708546

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669546A>C (hg19) ; chr10:g.49461500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461500A>C , CM000672.2:g.49461500A>C	GRCh38
NC_000010.10:g.50669546A>C , CM000672.1:g.50669546A>C	GRCh37
NC_000010.9:g.50339552A>C	NCBI36
NG_009442.1:g.82602T>G , LRG_465:g.82602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3835T>G MANE Select	ENSP00000348089.5:p.Tyr1279Asp
ENST00000679552.1:n.906T>G
ENST00000679871.1:n.981T>G
ENST00000679974.1:n.884T>G
ENST00000681632.1:n.5238T>G
ENST00000681659.1:c.3676T>G	ENSP00000505631.1:p.Tyr1226Asp
ENST00000355832.9:c.3835T>G	ENSP00000348089.5:p.Tyr1279Asp
ENST00000465653.1:n.157T>G
ENST00000623073.3:c.*2131T>G	ENSP00000485650.1:n.*2131T>G
ENST00000623115.3:c.1945T>G	ENSP00000485321.1:p.Tyr649Asp
ENST00000624341.3:c.1667T>G
NM_000124.3:c.3835T>G	NP_000115.1:p.Tyr1279Asp
XR_945953.1:n.243-10065A>C
NM_001346440.1:c.3835T>G	NP_001333369.1:p.Tyr1279Asp
NM_000124.4:c.3835T>G MANE Select	NP_000115.1:p.Tyr1279Asp
NM_001346440.2:c.3835T>G	NP_001333369.1:p.Tyr1279Asp