Canonical Allele Identifier: CA10614188

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55924030C>G , CM000664.2:g.55924030C>G	GRCh38
NC_000002.11:g.56151165C>G , CM000664.1:g.56151165C>G	GRCh37
NC_000002.10:g.56004669C>G	NCBI36
NG_009098.1:g.4768G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.2:c.-368G>C	NP_001034437.1:n.-368G>C
NM_001039349.2:c.-327G>C	NP_001034438.1:n.-327G>C
ENST00000394555.6:c.-327G>C	ENSP00000378058.2:n.-327G>C
XM_005264205.3:c.23G>C	XP_005264262.1:p.Arg8Pro
XM_005264205.4:c.23G>C	XP_005264262.1:p.Arg8Pro
XM_017003586.2:c.-327G>C	XP_016859075.1:n.-327G>C