Canonical Allele Identifier: CA376724921

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483424A>C , CM000672.2:g.49483424A>C	GRCh38
NC_000010.10:g.50691470A>C , CM000672.1:g.50691470A>C	GRCh37
NC_000010.9:g.50361476A>C	NCBI36
NG_009442.1:g.60678T>G , LRG_465:g.60678T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1914T>G MANE Select	NP_000115.1:p.Tyr638Ter
ENST00000355832.10:c.1914T>G MANE Select	ENSP00000348089.5:p.Tyr638Ter
NM_000124.3:c.1914T>G	NP_000115.1:p.Tyr638Ter
NM_001346440.1:c.1914T>G	NP_001333369.1:p.Tyr638Ter
NM_001346440.2:c.1914T>G	NP_001333369.1:p.Tyr638Ter
ENST00000355832.9:c.1914T>G	ENSP00000348089.5:p.Tyr638Ter
ENST00000475116.1:n.368T>G
ENST00000623073.3:c.*306T>G	ENSP00000485650.1:n.*306T>G
ENST00000623115.3:c.24T>G	ENSP00000485321.1:p.Tyr8Ter
ENST00000623318.1:c.315T>G	ENSP00000485423.1:p.Tyr105Ter
ENST00000681632.1:n.1992T>G
ENST00000681659.1:c.1755T>G	ENSP00000505631.1:p.Tyr585Ter