Canonical Allele Identifier: CA376724257

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49482749-A-G
• MyVariant Identifiers: chr10:g.50690795A>G (hg19) ; chr10:g.49482749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482749A>G , CM000672.2:g.49482749A>G	GRCh38
NC_000010.10:g.50690795A>G , CM000672.1:g.50690795A>G	GRCh37
NC_000010.9:g.50360801A>G	NCBI36
NG_009442.1:g.61353T>C , LRG_465:g.61353T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2107T>C MANE Select	ENSP00000348089.5:p.Phe703Leu
ENST00000681632.1:n.2185T>C
ENST00000681659.1:c.1948T>C	ENSP00000505631.1:p.Phe650Leu
ENST00000355832.9:c.2107T>C	ENSP00000348089.5:p.Phe703Leu
ENST00000623073.3:c.*499T>C	ENSP00000485650.1:n.*499T>C
ENST00000623115.3:c.217T>C	ENSP00000485321.1:p.Phe73Leu
NM_000124.3:c.2107T>C	NP_000115.1:p.Phe703Leu
NM_001346440.1:c.2107T>C	NP_001333369.1:p.Phe703Leu
NM_000124.4:c.2107T>C MANE Select	NP_000115.1:p.Phe703Leu
NM_001346440.2:c.2107T>C	NP_001333369.1:p.Phe703Leu