Canonical Allele Identifier: CA2576136668
Gene: ENO3 HGNC NCBI

Linked Data

gnomAD v4: 17-4955318-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955318G>C , CM000679.2:g.4955318G>C GRCh38
NC_000017.10:g.4858613G>C , CM000679.1:g.4858613G>C GRCh37
NC_000017.9:g.4799359G>C NCBI36
NG_012063.2:g.14228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.667+21G>C MANE Select ENSP00000430055.2:n.667+21G>C
ENST00000323997.10:c.667+21G>C ENSP00000324105.6:n.667+21G>C
ENST00000518175.1:c.667+21G>C ENSP00000431087.1:n.667+21G>C
ENST00000519584.5:c.538+21G>C ENSP00000430636.1:n.538+21G>C
ENST00000519602.5:c.667+21G>C ENSP00000430055.1:n.667+21G>C
ENST00000521659.5:c.*613+21G>C ENSP00000430554.1:n.*613+21G>C
NM_001193503.1:c.538+21G>C NP_001180432.1:n.538+21G>C
NM_001976.4:c.667+21G>C NP_001967.3:n.667+21G>C
NM_053013.3:c.667+21G>C NP_443739.3:n.667+21G>C
XM_005256521.2:c.694+21G>C XP_005256578.1:n.694+21G>C
XM_011523729.1:c.667+21G>C XP_011522031.1:n.667+21G>C
XM_017024346.2:c.667+21G>C XP_016879835.1:n.667+21G>C
NM_001193503.2:c.538+21G>C NP_001180432.1:n.538+21G>C
NM_001374523.1:c.667+21G>C NP_001361452.1:n.667+21G>C
NM_001374524.1:c.694+21G>C NP_001361453.1:n.694+21G>C
NM_001976.5:c.667+21G>C NP_001967.3:n.667+21G>C
NM_053013.4:c.667+21G>C MANE Select NP_443739.3:n.667+21G>C