Canonical Allele Identifier: CA481949575
Gene: MED13L HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.116434947C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997142C>T , CM000674.2:g.115997142C>T GRCh38
NC_000012.11:g.116434947C>T , CM000674.1:g.116434947C>T GRCh37
NC_000012.10:g.114919330C>T NCBI36
NG_023366.1:g.285045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2658G>A MANE Select ENSP00000281928.3:p.Gly886=
ENST00000548743.2:c.2628G>A ENSP00000448553.2:p.Gly876=
ENST00000549786.2:c.2086G>A
ENST00000647927.1:n.3031G>A
ENST00000648173.1:n.1453G>A
ENST00000648379.1:n.1026G>A
ENST00000648737.1:n.2422G>A
ENST00000648916.1:n.669G>A
ENST00000649607.1:c.842G>A
ENST00000650226.1:c.2658G>A ENSP00000496981.1:p.Gly886=
ENST00000281928.7:c.2658G>A ENSP00000281928.3:p.Gly886=
NM_015335.4:c.2658G>A NP_056150.1:p.Gly886=
XM_011538080.1:c.2658G>A XP_011536382.1:p.Gly886=
XM_011538081.1:c.2655G>A XP_011536383.1:p.Gly885=
XM_011538082.1:c.2628G>A XP_011536384.1:p.Gly876=
XM_011538080.2:c.2658G>A XP_011536382.1:p.Gly886=
XM_011538081.2:c.2655G>A XP_011536383.1:p.Gly885=
XM_011538082.2:c.2628G>A XP_011536384.1:p.Gly876=
XM_017019090.1:c.2655G>A XP_016874579.1:p.Gly885=
NM_015335.5:c.2658G>A MANE Select NP_056150.1:p.Gly886=