Canonical Allele Identifier: CA376712791

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678307C>A (hg19) ; chr10:g.49470261C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470261C>A , CM000672.2:g.49470261C>A	GRCh38
NC_000010.10:g.50678307C>A , CM000672.1:g.50678307C>A	GRCh37
NC_000010.9:g.50348313C>A	NCBI36
NG_009442.1:g.73841G>T , LRG_465:g.73841G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3699G>T MANE Select	ENSP00000348089.5:p.Lys1233Asn
ENST00000679552.1:n.770G>T
ENST00000679871.1:n.845G>T
ENST00000679974.1:n.748G>T
ENST00000681632.1:n.5102G>T
ENST00000681659.1:c.3540G>T	ENSP00000505631.1:p.Lys1180Asn
ENST00000355832.9:c.3699G>T	ENSP00000348089.5:p.Lys1233Asn
ENST00000465653.1:n.21G>T
ENST00000623073.3:c.*1995G>T	ENSP00000485650.1:n.*1995G>T
ENST00000623115.3:c.1809G>T	ENSP00000485321.1:p.Lys603Asn
ENST00000624341.3:c.1531G>T
NM_000124.3:c.3699G>T	NP_000115.1:p.Lys1233Asn
XR_945953.1:n.243-1304C>A
NM_001346440.1:c.3699G>T	NP_001333369.1:p.Lys1233Asn
NM_000124.4:c.3699G>T MANE Select	NP_000115.1:p.Lys1233Asn
NM_001346440.2:c.3699G>T	NP_001333369.1:p.Lys1233Asn