Canonical Allele Identifier: CA8316334
Gene: ENO3 HGNC NCBI

Linked Data

dbSNP Id: rs772132905
gnomAD v2: 17-4858420-G-T
gnomAD v4: 17-4955125-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955125G>T , CM000679.2:g.4955125G>T GRCh38
NC_000017.10:g.4858420G>T , CM000679.1:g.4858420G>T GRCh37
NC_000017.9:g.4799166G>T NCBI36
NG_012063.2:g.14035G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.495G>T MANE Select ENSP00000430055.2:p.Met165Ile
ENST00000323997.10:c.495G>T ENSP00000324105.6:p.Met165Ile
ENST00000518175.1:c.495G>T ENSP00000431087.1:p.Met165Ile
ENST00000519584.5:c.366G>T ENSP00000430636.1:p.Met122Ile
ENST00000519602.5:c.495G>T ENSP00000430055.1:p.Met165Ile
ENST00000520221.5:c.495G>T ENSP00000467444.1:p.Met165Ile
ENST00000521659.5:c.*441G>T ENSP00000430554.1:n.*441G>T
ENST00000522301.5:c.495G>T ENSP00000465697.1:p.Met165Ile
NM_001193503.1:c.366G>T NP_001180432.1:p.Met122Ile
NM_001976.4:c.495G>T NP_001967.3:p.Met165Ile
NM_053013.3:c.495G>T NP_443739.3:p.Met165Ile
XM_005256521.2:c.522G>T XP_005256578.1:p.Met174Ile
XM_011523729.1:c.495G>T XP_011522031.1:p.Met165Ile
XM_017024346.2:c.495G>T XP_016879835.1:p.Met165Ile
NM_001193503.2:c.366G>T NP_001180432.1:p.Met122Ile
NM_001374523.1:c.495G>T NP_001361452.1:p.Met165Ile
NM_001374524.1:c.522G>T NP_001361453.1:p.Met174Ile
NM_001976.5:c.495G>T NP_001967.3:p.Met165Ile
NM_053013.4:c.495G>T MANE Select NP_443739.3:p.Met165Ile