Canonical Allele Identifier: CA386889079

Gene: MED13L

Linked Data

• dbSNP Id: rs1367518543
• gnomAD v2: 12-116429710-G-T
• gnomAD v4: 12-115991905-G-T
• MyVariant Identifiers: chr12:g.116429710G>T (hg19) ; chr12:g.115991905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991905G>T , CM000674.2:g.115991905G>T	GRCh38
NC_000012.11:g.116429710G>T , CM000674.1:g.116429710G>T	GRCh37
NC_000012.10:g.114914093G>T	NCBI36
NG_023366.1:g.290282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3049C>A MANE Select	ENSP00000281928.3:p.Gln1017Lys
ENST00000548743.2:c.3019C>A	ENSP00000448553.2:p.Gln1007Lys
ENST00000549786.2:c.2477C>A
ENST00000648173.1:n.1844C>A
ENST00000648379.1:n.1417C>A
ENST00000648737.1:n.2813C>A
ENST00000648916.1:n.1060C>A
ENST00000649607.1:c.1233C>A
ENST00000650226.1:c.3049C>A	ENSP00000496981.1:p.Gln1017Lys
ENST00000281928.7:c.3049C>A	ENSP00000281928.3:p.Gln1017Lys
NM_015335.4:c.3049C>A	NP_056150.1:p.Gln1017Lys
XM_011538080.1:c.3049C>A	XP_011536382.1:p.Gln1017Lys
XM_011538081.1:c.3046C>A	XP_011536383.1:p.Gln1016Lys
XM_011538082.1:c.3019C>A	XP_011536384.1:p.Gln1007Lys
XM_011538080.2:c.3049C>A	XP_011536382.1:p.Gln1017Lys
XM_011538081.2:c.3046C>A	XP_011536383.1:p.Gln1016Lys
XM_011538082.2:c.3019C>A	XP_011536384.1:p.Gln1007Lys
XM_017019090.1:c.3046C>A	XP_016874579.1:p.Gln1016Lys
NM_015335.5:c.3049C>A MANE Select	NP_056150.1:p.Gln1017Lys