Canonical Allele Identifier: CA481949498
Gene: MED13L HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.116434845T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997040T>A , CM000674.2:g.115997040T>A GRCh38
NC_000012.11:g.116434845T>A , CM000674.1:g.116434845T>A GRCh37
NC_000012.10:g.114919228T>A NCBI36
NG_023366.1:g.285147A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2760A>T MANE Select ENSP00000281928.3:p.Gly920=
ENST00000548743.2:c.2730A>T ENSP00000448553.2:p.Gly910=
ENST00000549786.2:c.2188A>T
ENST00000647927.1:n.3133A>T
ENST00000648173.1:n.1555A>T
ENST00000648379.1:n.1128A>T
ENST00000648737.1:n.2524A>T
ENST00000648916.1:n.771A>T
ENST00000649607.1:c.944A>T
ENST00000650226.1:c.2760A>T ENSP00000496981.1:p.Gly920=
ENST00000281928.7:c.2760A>T ENSP00000281928.3:p.Gly920=
NM_015335.4:c.2760A>T NP_056150.1:p.Gly920=
XM_011538080.1:c.2760A>T XP_011536382.1:p.Gly920=
XM_011538081.1:c.2757A>T XP_011536383.1:p.Gly919=
XM_011538082.1:c.2730A>T XP_011536384.1:p.Gly910=
XM_011538080.2:c.2760A>T XP_011536382.1:p.Gly920=
XM_011538081.2:c.2757A>T XP_011536383.1:p.Gly919=
XM_011538082.2:c.2730A>T XP_011536384.1:p.Gly910=
XM_017019090.1:c.2757A>T XP_016874579.1:p.Gly919=
NM_015335.5:c.2760A>T MANE Select NP_056150.1:p.Gly920=