Canonical Allele Identifier: CA376726621

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701270C>A (hg19) ; chr10:g.49493224C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493224C>A , CM000672.2:g.49493224C>A	GRCh38
NC_000010.10:g.50701270C>A , CM000672.1:g.50701270C>A	GRCh37
NC_000010.9:g.50371276C>A	NCBI36
NG_009442.1:g.50878G>T , LRG_465:g.50878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1714G>T MANE Select	ENSP00000348089.5:p.Val572Phe
ENST00000681632.1:n.1792G>T
ENST00000681659.1:c.1555G>T	ENSP00000505631.1:p.Val519Phe
ENST00000355832.9:c.1714G>T	ENSP00000348089.5:p.Val572Phe
ENST00000475116.1:n.275+7314G>T
ENST00000623073.3:c.115G>T	ENSP00000485650.1:p.Val39Phe
ENST00000623115.3:c.-70+7314G>T	ENSP00000485321.1:n.-70+7314G>T
ENST00000623318.1:c.115G>T	ENSP00000485423.1:p.Val39Phe
NM_000124.3:c.1714G>T	NP_000115.1:p.Val572Phe
NM_001346440.1:c.1714G>T	NP_001333369.1:p.Val572Phe
NM_000124.4:c.1714G>T MANE Select	NP_000115.1:p.Val572Phe
NM_001346440.2:c.1714G>T	NP_001333369.1:p.Val572Phe