Canonical Allele Identifier: CA15170243

Gene: ERCC3

Linked Data

• dbSNP Id: rs4150506
• gnomAD v2: 2-128020546-G-A
• gnomAD v3: 2-127262970-G-A
• gnomAD v4: 2-127262970-G-A
• MyVariant Identifiers: chr2:g.128020546G>A (hg19) ; chr2:g.127262970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127262970G>A , CM000664.2:g.127262970G>A	GRCh38
NC_000002.11:g.128020546G>A , CM000664.1:g.128020546G>A	GRCh37
NC_000002.10:g.127737016G>A	NCBI36
NG_007454.1:g.36207C>T , LRG_462:g.36207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285398.7:c.1946-1624C>T MANE Select	ENSP00000285398.2:n.1946-1624C>T
ENST00000642972.1:n.305-1624C>T
ENST00000644317.1:c.*1435-1624C>T	ENSP00000494012.1:n.*1435-1624C>T
ENST00000645233.1:c.*2158-1624C>T	ENSP00000494116.1:n.*2158-1624C>T
ENST00000645467.1:c.*718-1624C>T	ENSP00000494889.1:n.*718-1624C>T
ENST00000645504.1:c.602-1624C>T
ENST00000645736.1:c.1617-1624C>T	ENSP00000494545.1:n.1617-1624C>T
ENST00000646042.1:n.2681-1624C>T
ENST00000646654.1:c.*1413-1624C>T	ENSP00000494526.1:n.*1413-1624C>T
ENST00000647169.1:c.2021-1624C>T	ENSP00000495619.1:n.2021-1624C>T
ENST00000647496.1:c.396-5368C>T
ENST00000285398.6:c.1946-1624C>T	ENSP00000285398.2:n.1946-1624C>T
ENST00000426778.5:c.*1927-1624C>T	ENSP00000415335.1:n.*1927-1624C>T
ENST00000445889.5:c.*1989-1624C>T	ENSP00000390888.1:n.*1989-1624C>T
NM_000122.1:c.1946-1624C>T , LRG_462t1:c.1946-1624C>T	NP_000113.1:n.1946-1624C>T
NM_001303416.1:c.1754-1624C>T	NP_001290345.1:n.1754-1624C>T
NM_001303418.1:c.1754-1624C>T	NP_001290347.1:n.1754-1624C>T
XM_011510794.1:c.1964-1624C>T	XP_011509096.1:n.1964-1624C>T
XM_011510795.1:c.1508-1624C>T	XP_011509097.1:n.1508-1624C>T
XM_011510794.2:c.1964-1624C>T	XP_011509096.1:n.1964-1624C>T
XM_017003583.1:c.1490-1624C>T	XP_016859072.1:n.1490-1624C>T
NM_000122.2:c.1946-1624C>T MANE Select	NP_000113.1:n.1946-1624C>T
NM_001303416.2:c.1754-1624C>T	NP_001290345.1:n.1754-1624C>T
NM_001303418.2:c.1754-1624C>T	NP_001290347.1:n.1754-1624C>T