Canonical Allele Identifier: CA481949472

Gene: MED13L

Linked Data

• dbSNP Id: rs1336040404
• gnomAD v2: 12-116434824-C-T
• gnomAD v3: 12-115997019-C-T
• gnomAD v4: 12-115997019-C-T
• MyVariant Identifiers: chr12:g.116434824C>T (hg19) ; chr12:g.115997019C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2781G>A MANE Select	ENSP00000281928.3:p.Glu927=
ENST00000548743.2:c.2751G>A	ENSP00000448553.2:p.Glu917=
ENST00000549786.2:c.2209G>A
ENST00000647927.1:n.3154G>A
ENST00000648173.1:n.1576G>A
ENST00000648379.1:n.1149G>A
ENST00000648737.1:n.2545G>A
ENST00000648916.1:n.792G>A
ENST00000649607.1:c.965G>A
ENST00000650226.1:c.2781G>A	ENSP00000496981.1:p.Glu927=
ENST00000281928.7:c.2781G>A	ENSP00000281928.3:p.Glu927=
NM_015335.4:c.2781G>A	NP_056150.1:p.Glu927=
XM_011538080.1:c.2781G>A	XP_011536382.1:p.Glu927=
XM_011538081.1:c.2778G>A	XP_011536383.1:p.Glu926=
XM_011538082.1:c.2751G>A	XP_011536384.1:p.Glu917=
XM_011538080.2:c.2781G>A	XP_011536382.1:p.Glu927=
XM_011538081.2:c.2778G>A	XP_011536383.1:p.Glu926=
XM_011538082.2:c.2751G>A	XP_011536384.1:p.Glu917=
XM_017019090.1:c.2778G>A	XP_016874579.1:p.Glu926=
NM_015335.5:c.2781G>A MANE Select	NP_056150.1:p.Glu927=