Canonical Allele Identifier: CA6811466

Gene: MED13L

Linked Data

• dbSNP Id: rs751751984
• ExAC: 12:116450663 T / C
• gnomAD v2: 12-116450663-T-C
• gnomAD v4: 12-116012858-T-C
• MyVariant Identifiers: chr12:g.116450663T>C (hg19) ; chr12:g.116012858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012858T>C , CM000674.2:g.116012858T>C	GRCh38
NC_000012.11:g.116450663T>C , CM000674.1:g.116450663T>C	GRCh37
NC_000012.10:g.114935046T>C	NCBI36
NG_023366.1:g.269329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1219A>G MANE Select	ENSP00000281928.3:p.Ser407Gly
ENST00000548743.2:c.1189A>G	ENSP00000448553.2:p.Ser397Gly
ENST00000549786.2:c.647A>G
ENST00000647567.1:c.1126A>G	ENSP00000497136.1:p.Ser376Gly
ENST00000648737.1:n.983A>G
ENST00000650226.1:c.1219A>G	ENSP00000496981.1:p.Ser407Gly
ENST00000281928.7:c.1219A>G	ENSP00000281928.3:p.Ser407Gly
NM_015335.4:c.1219A>G	NP_056150.1:p.Ser407Gly
XM_011538080.1:c.1219A>G	XP_011536382.1:p.Ser407Gly
XM_011538081.1:c.1219A>G	XP_011536383.1:p.Ser407Gly
XM_011538082.1:c.1189A>G	XP_011536384.1:p.Ser397Gly
XM_011538080.2:c.1219A>G	XP_011536382.1:p.Ser407Gly
XM_011538081.2:c.1219A>G	XP_011536383.1:p.Ser407Gly
XM_011538082.2:c.1189A>G	XP_011536384.1:p.Ser397Gly
XM_017019090.1:c.1219A>G	XP_016874579.1:p.Ser407Gly
NM_015335.5:c.1219A>G MANE Select	NP_056150.1:p.Ser407Gly