Canonical Allele Identifier: CA386890212

Gene: MED13L

Linked Data

• gnomAD v4: 12-115997019-C-A
• MyVariant Identifiers: chr12:g.116434824C>A (hg19) ; chr12:g.115997019C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997019C>A , CM000674.2:g.115997019C>A	GRCh38
NC_000012.11:g.116434824C>A , CM000674.1:g.116434824C>A	GRCh37
NC_000012.10:g.114919207C>A	NCBI36
NG_023366.1:g.285168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2781G>T MANE Select	ENSP00000281928.3:p.Glu927Asp
ENST00000548743.2:c.2751G>T	ENSP00000448553.2:p.Glu917Asp
ENST00000549786.2:c.2209G>T
ENST00000647927.1:n.3154G>T
ENST00000648173.1:n.1576G>T
ENST00000648379.1:n.1149G>T
ENST00000648737.1:n.2545G>T
ENST00000648916.1:n.792G>T
ENST00000649607.1:c.965G>T
ENST00000650226.1:c.2781G>T	ENSP00000496981.1:p.Glu927Asp
ENST00000281928.7:c.2781G>T	ENSP00000281928.3:p.Glu927Asp
NM_015335.4:c.2781G>T	NP_056150.1:p.Glu927Asp
XM_011538080.1:c.2781G>T	XP_011536382.1:p.Glu927Asp
XM_011538081.1:c.2778G>T	XP_011536383.1:p.Glu926Asp
XM_011538082.1:c.2751G>T	XP_011536384.1:p.Glu917Asp
XM_011538080.2:c.2781G>T	XP_011536382.1:p.Glu927Asp
XM_011538081.2:c.2778G>T	XP_011536383.1:p.Glu926Asp
XM_011538082.2:c.2751G>T	XP_011536384.1:p.Glu917Asp
XM_017019090.1:c.2778G>T	XP_016874579.1:p.Glu926Asp
NM_015335.5:c.2781G>T MANE Select	NP_056150.1:p.Glu927Asp