Canonical Allele Identifier: CA386881171

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982467-A-G
• MyVariant Identifiers: chr12:g.116420272A>G (hg19) ; chr12:g.115982467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982467A>G , CM000674.2:g.115982467A>G	GRCh38
NC_000012.11:g.116420272A>G , CM000674.1:g.116420272A>G	GRCh37
NC_000012.10:g.114904655A>G	NCBI36
NG_023366.1:g.299720T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5092T>C MANE Select	ENSP00000281928.3:p.Phe1698Leu
ENST00000549786.2:c.4520T>C
ENST00000648379.1:n.3460T>C
ENST00000648737.1:n.4856T>C
ENST00000648825.1:n.1832T>C
ENST00000648916.1:n.3103T>C
ENST00000649146.1:n.2335T>C
ENST00000649607.1:c.3276T>C
ENST00000649775.1:c.1581T>C
ENST00000650226.1:c.5092T>C	ENSP00000496981.1:p.Phe1698Leu
ENST00000281928.7:c.5092T>C	ENSP00000281928.3:p.Phe1698Leu
ENST00000549786.1:c.456T>C
ENST00000552340.1:c.124T>C	ENSP00000449876.1:p.Phe42Leu
NM_015335.4:c.5092T>C	NP_056150.1:p.Phe1698Leu
XM_011538080.1:c.5092T>C	XP_011536382.1:p.Phe1698Leu
XM_011538081.1:c.5089T>C	XP_011536383.1:p.Phe1697Leu
XM_011538082.1:c.5062T>C	XP_011536384.1:p.Phe1688Leu
XM_011538080.2:c.5092T>C	XP_011536382.1:p.Phe1698Leu
XM_011538081.2:c.5089T>C	XP_011536383.1:p.Phe1697Leu
XM_011538082.2:c.5062T>C	XP_011536384.1:p.Phe1688Leu
XM_017019090.1:c.5089T>C	XP_016874579.1:p.Phe1697Leu
NM_015335.5:c.5092T>C MANE Select	NP_056150.1:p.Phe1698Leu