Canonical Allele Identifier: CA386889165

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991947-T-C
• MyVariant Identifiers: chr12:g.116429752T>C (hg19) ; chr12:g.115991947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991947T>C , CM000674.2:g.115991947T>C	GRCh38
NC_000012.11:g.116429752T>C , CM000674.1:g.116429752T>C	GRCh37
NC_000012.10:g.114914135T>C	NCBI36
NG_023366.1:g.290240A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3007A>G MANE Select	ENSP00000281928.3:p.Ser1003Gly
ENST00000548743.2:c.2977A>G	ENSP00000448553.2:p.Ser993Gly
ENST00000549786.2:c.2435A>G
ENST00000648173.1:n.1802A>G
ENST00000648379.1:n.1375A>G
ENST00000648737.1:n.2771A>G
ENST00000648916.1:n.1018A>G
ENST00000649607.1:c.1191A>G
ENST00000650226.1:c.3007A>G	ENSP00000496981.1:p.Ser1003Gly
ENST00000281928.7:c.3007A>G	ENSP00000281928.3:p.Ser1003Gly
NM_015335.4:c.3007A>G	NP_056150.1:p.Ser1003Gly
XM_011538080.1:c.3007A>G	XP_011536382.1:p.Ser1003Gly
XM_011538081.1:c.3004A>G	XP_011536383.1:p.Ser1002Gly
XM_011538082.1:c.2977A>G	XP_011536384.1:p.Ser993Gly
XM_011538080.2:c.3007A>G	XP_011536382.1:p.Ser1003Gly
XM_011538081.2:c.3004A>G	XP_011536383.1:p.Ser1002Gly
XM_011538082.2:c.2977A>G	XP_011536384.1:p.Ser993Gly
XM_017019090.1:c.3004A>G	XP_016874579.1:p.Ser1002Gly
NM_015335.5:c.3007A>G MANE Select	NP_056150.1:p.Ser1003Gly