Canonical Allele Identifier: CA386890223

Gene: MED13L

Linked Data

• dbSNP Id: rs1408077758
• gnomAD v2: 12-116434826-C-G
• gnomAD v4: 12-115997021-C-G
• MyVariant Identifiers: chr12:g.116434826C>G (hg19) ; chr12:g.115997021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997021C>G , CM000674.2:g.115997021C>G	GRCh38
NC_000012.11:g.116434826C>G , CM000674.1:g.116434826C>G	GRCh37
NC_000012.10:g.114919209C>G	NCBI36
NG_023366.1:g.285166G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2779G>C MANE Select	ENSP00000281928.3:p.Glu927Gln
ENST00000548743.2:c.2749G>C	ENSP00000448553.2:p.Glu917Gln
ENST00000549786.2:c.2207G>C
ENST00000647927.1:n.3152G>C
ENST00000648173.1:n.1574G>C
ENST00000648379.1:n.1147G>C
ENST00000648737.1:n.2543G>C
ENST00000648916.1:n.790G>C
ENST00000649607.1:c.963G>C
ENST00000650226.1:c.2779G>C	ENSP00000496981.1:p.Glu927Gln
ENST00000281928.7:c.2779G>C	ENSP00000281928.3:p.Glu927Gln
NM_015335.4:c.2779G>C	NP_056150.1:p.Glu927Gln
XM_011538080.1:c.2779G>C	XP_011536382.1:p.Glu927Gln
XM_011538081.1:c.2776G>C	XP_011536383.1:p.Glu926Gln
XM_011538082.1:c.2749G>C	XP_011536384.1:p.Glu917Gln
XM_011538080.2:c.2779G>C	XP_011536382.1:p.Glu927Gln
XM_011538081.2:c.2776G>C	XP_011536383.1:p.Glu926Gln
XM_011538082.2:c.2749G>C	XP_011536384.1:p.Glu917Gln
XM_017019090.1:c.2776G>C	XP_016874579.1:p.Glu926Gln
NM_015335.5:c.2779G>C MANE Select	NP_056150.1:p.Glu927Gln