Canonical Allele Identifier: CA345235727

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231421180C>G , CM000663.2:g.231421180C>G	GRCh38
NC_000001.10:g.231556926C>G , CM000663.1:g.231556926C>G	GRCh37
NC_000001.9:g.229623549C>G	NCBI36
NG_015865.1:g.8865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.709G>C MANE Select	ENSP00000355601.3:p.Asp237His
ENST00000653198.1:n.433+41292G>C
ENST00000653908.1:c.30+41258G>C	ENSP00000499669.1:n.30+41258G>C
ENST00000658954.1:c.83G>C
ENST00000662216.1:c.30+41258G>C	ENSP00000499467.1:n.30+41258G>C
ENST00000667629.1:c.13G>C	ENSP00000499629.1:p.Asp5His
ENST00000670301.1:c.47G>C
ENST00000366641.3:c.709G>C	ENSP00000355601.3:p.Asp237His
NM_022051.2:c.709G>C	NP_071334.1:p.Asp237His
XM_005273166.3:c.709G>C	XP_005273223.1:p.Asp237His
XM_005273167.3:c.709G>C	XP_005273224.1:p.Asp237His
XM_005273166.5:c.709G>C	XP_005273223.1:p.Asp237His
XM_005273167.5:c.709G>C	XP_005273224.1:p.Asp237His
XM_024447734.1:c.709G>C	XP_024303502.1:p.Asp237His
NM_001377260.1:c.709G>C	NP_001364189.1:p.Asp237His
NM_001377261.1:c.709G>C	NP_001364190.1:p.Asp237His
NM_022051.3:c.709G>C MANE Select	NP_071334.1:p.Asp237His