Canonical Allele Identifier: CA376717581

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679085A>T (hg19) ; chr10:g.49471039A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471039A>T , CM000672.2:g.49471039A>T	GRCh38
NC_000010.10:g.50679085A>T , CM000672.1:g.50679085A>T	GRCh37
NC_000010.9:g.50349091A>T	NCBI36
NG_009442.1:g.73063T>A , LRG_465:g.73063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3006T>A MANE Select	ENSP00000348089.5:p.Tyr1002Ter
ENST00000679552.1:n.142-150T>A
ENST00000679871.1:n.152T>A
ENST00000679974.1:n.120-150T>A
ENST00000681632.1:n.4409T>A
ENST00000681659.1:c.2847T>A	ENSP00000505631.1:p.Tyr949Ter
ENST00000355832.9:c.3006T>A	ENSP00000348089.5:p.Tyr1002Ter
ENST00000623073.3:c.*1302T>A	ENSP00000485650.1:n.*1302T>A
ENST00000623115.3:c.1116T>A	ENSP00000485321.1:p.Tyr372Ter
ENST00000624341.3:c.838T>A
NM_000124.3:c.3006T>A	NP_000115.1:p.Tyr1002Ter
XR_945953.1:n.243-526A>T
NM_001346440.1:c.3006T>A	NP_001333369.1:p.Tyr1002Ter
NM_000124.4:c.3006T>A MANE Select	NP_000115.1:p.Tyr1002Ter
NM_001346440.2:c.3006T>A	NP_001333369.1:p.Tyr1002Ter