Canonical Allele Identifier: CA6232242
Gene: MED17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.93784612G>A , CM000673.2:g.93784612G>A GRCh38
NC_000011.9:g.93517778G>A , CM000673.1:g.93517778G>A GRCh37
NC_000011.8:g.93157426G>A NCBI36
NG_028028.1:g.5374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251871.9:c.99G>A MANE Select ENSP00000251871.3:p.Pro33=
ENST00000507258.4:n.187G>A
ENST00000525026.6:n.320G>A
ENST00000528786.2:c.39G>A ENSP00000433626.2:p.Pro13=
ENST00000533133.6:c.99G>A ENSP00000433090.2:p.Pro33=
ENST00000638294.1:c.99G>A ENSP00000491675.1:p.Pro33=
ENST00000638487.1:c.99G>A ENSP00000492294.1:p.Pro33=
ENST00000638518.1:c.35G>A
ENST00000638767.1:c.676-16G>A ENSP00000492220.1:n.676-16G>A
ENST00000639189.1:c.99G>A ENSP00000491770.1:p.Pro33=
ENST00000639457.1:c.99G>A ENSP00000492391.1:p.Pro33=
ENST00000639596.1:c.99G>A ENSP00000491918.1:p.Pro33=
ENST00000639724.1:c.99G>A ENSP00000492625.1:p.Pro33=
ENST00000640027.1:c.99G>A ENSP00000492872.1:p.Pro33=
ENST00000640451.1:c.99G>A ENSP00000492530.1:p.Pro33=
ENST00000640473.1:c.99G>A ENSP00000491371.1:p.Pro33=
ENST00000640521.1:c.99G>A ENSP00000491108.1:p.Pro33=
ENST00000640583.1:n.386G>A
ENST00000640804.1:n.386G>A
ENST00000251871.7:c.99G>A ENSP00000251871.3:p.Pro33=
ENST00000530819.1:c.99G>A ENSP00000434459.1:p.Pro33=
ENST00000533133.5:c.99G>A ENSP00000433090.1:p.Pro33=
ENST00000533359.5:c.99G>A ENSP00000431524.1:p.Pro33=
NM_004268.4:c.99G>A NP_004259.3:p.Pro33=
XM_011543068.1:c.99G>A XP_011541370.1:p.Pro33=
XR_247218.1:n.333G>A
XR_947872.1:n.333G>A
NM_004268.5:c.99G>A MANE Select NP_004259.3:p.Pro33=