Canonical Allele Identifier: CA386883859

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4340T>C MANE Select	ENSP00000281928.3:p.Met1447Thr
ENST00000549786.2:c.3768T>C
ENST00000648379.1:n.2708T>C
ENST00000648737.1:n.4104T>C
ENST00000648825.1:n.1080T>C
ENST00000648916.1:n.2351T>C
ENST00000649146.1:n.1070T>C
ENST00000649607.1:c.2524T>C
ENST00000649775.1:c.837T>C
ENST00000650091.1:n.2316T>C
ENST00000650226.1:c.4340T>C	ENSP00000496981.1:p.Met1447Thr
ENST00000281928.7:c.4340T>C	ENSP00000281928.3:p.Met1447Thr
NM_015335.4:c.4340T>C	NP_056150.1:p.Met1447Thr
XM_011538080.1:c.4340T>C	XP_011536382.1:p.Met1447Thr
XM_011538081.1:c.4337T>C	XP_011536383.1:p.Met1446Thr
XM_011538082.1:c.4310T>C	XP_011536384.1:p.Met1437Thr
XM_011538080.2:c.4340T>C	XP_011536382.1:p.Met1447Thr
XM_011538081.2:c.4337T>C	XP_011536383.1:p.Met1446Thr
XM_011538082.2:c.4310T>C	XP_011536384.1:p.Met1437Thr
XM_017019090.1:c.4337T>C	XP_016874579.1:p.Met1446Thr
NM_015335.5:c.4340T>C MANE Select	NP_056150.1:p.Met1447Thr