Canonical Allele Identifier: CA376716001

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678731T>A (hg19) ; chr10:g.49470685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470685T>A , CM000672.2:g.49470685T>A	GRCh38
NC_000010.10:g.50678731T>A , CM000672.1:g.50678731T>A	GRCh37
NC_000010.9:g.50348737T>A	NCBI36
NG_009442.1:g.73417A>T , LRG_465:g.73417A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3275A>T MANE Select	ENSP00000348089.5:p.Lys1092Ile
ENST00000679552.1:n.346A>T
ENST00000679871.1:n.421A>T
ENST00000679974.1:n.324A>T
ENST00000681632.1:n.4678A>T
ENST00000681659.1:c.3116A>T	ENSP00000505631.1:p.Lys1039Ile
ENST00000355832.9:c.3275A>T	ENSP00000348089.5:p.Lys1092Ile
ENST00000623073.3:c.*1571A>T	ENSP00000485650.1:n.*1571A>T
ENST00000623115.3:c.1385A>T	ENSP00000485321.1:p.Lys462Ile
ENST00000624341.3:c.1107A>T
NM_000124.3:c.3275A>T	NP_000115.1:p.Lys1092Ile
XR_945953.1:n.243-880T>A
NM_001346440.1:c.3275A>T	NP_001333369.1:p.Lys1092Ile
NM_000124.4:c.3275A>T MANE Select	NP_000115.1:p.Lys1092Ile
NM_001346440.2:c.3275A>T	NP_001333369.1:p.Lys1092Ile