Canonical Allele Identifier: CA386883858

Gene: MED13L

Linked Data

• dbSNP Id: rs1305058679
• gnomAD v2: 12-116422176-A-T
• gnomAD v3: 12-115984371-A-T
• gnomAD v4: 12-115984371-A-T
• MyVariant Identifiers: chr12:g.116422176A>T (hg19) ; chr12:g.115984371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984371A>T , CM000674.2:g.115984371A>T	GRCh38
NC_000012.11:g.116422176A>T , CM000674.1:g.116422176A>T	GRCh37
NC_000012.10:g.114906559A>T	NCBI36
NG_023366.1:g.297816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4340T>A MANE Select	ENSP00000281928.3:p.Met1447Lys
ENST00000549786.2:c.3768T>A
ENST00000648379.1:n.2708T>A
ENST00000648737.1:n.4104T>A
ENST00000648825.1:n.1080T>A
ENST00000648916.1:n.2351T>A
ENST00000649146.1:n.1070T>A
ENST00000649607.1:c.2524T>A
ENST00000649775.1:c.837T>A
ENST00000650091.1:n.2316T>A
ENST00000650226.1:c.4340T>A	ENSP00000496981.1:p.Met1447Lys
ENST00000281928.7:c.4340T>A	ENSP00000281928.3:p.Met1447Lys
NM_015335.4:c.4340T>A	NP_056150.1:p.Met1447Lys
XM_011538080.1:c.4340T>A	XP_011536382.1:p.Met1447Lys
XM_011538081.1:c.4337T>A	XP_011536383.1:p.Met1446Lys
XM_011538082.1:c.4310T>A	XP_011536384.1:p.Met1437Lys
XM_011538080.2:c.4340T>A	XP_011536382.1:p.Met1447Lys
XM_011538081.2:c.4337T>A	XP_011536383.1:p.Met1446Lys
XM_011538082.2:c.4310T>A	XP_011536384.1:p.Met1437Lys
XM_017019090.1:c.4337T>A	XP_016874579.1:p.Met1446Lys
NM_015335.5:c.4340T>A MANE Select	NP_056150.1:p.Met1447Lys