Canonical Allele Identifier: CA376729227

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708736C>A (hg19) ; chr10:g.49500690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500690C>A , CM000672.2:g.49500690C>A	GRCh38
NC_000010.10:g.50708736C>A , CM000672.1:g.50708736C>A	GRCh37
NC_000010.9:g.50378742C>A	NCBI36
NG_009442.1:g.43412G>T , LRG_465:g.43412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1533G>T MANE Select	ENSP00000348089.5:p.Gln511His
ENST00000681632.1:n.1611G>T
ENST00000681659.1:c.1526+5194G>T	ENSP00000505631.1:n.1526+5194G>T
ENST00000355832.9:c.1533G>T	ENSP00000348089.5:p.Gln511His
ENST00000475116.1:n.123G>T
ENST00000623073.3:c.-67G>T	ENSP00000485650.1:n.-67G>T
ENST00000623115.3:c.-222G>T	ENSP00000485321.1:n.-222G>T
ENST00000623318.1:c.-67G>T	ENSP00000485423.1:n.-67G>T
ENST00000623788.1:n.532G>T
NM_000124.3:c.1533G>T	NP_000115.1:p.Gln511His
NM_001346440.1:c.1533G>T	NP_001333369.1:p.Gln511His
NM_000124.4:c.1533G>T MANE Select	NP_000115.1:p.Gln511His
NM_001346440.2:c.1533G>T	NP_001333369.1:p.Gln511His