Canonical Allele Identifier: CA386890786

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1699227
• ClinVar RCV Id: RCV002273084
• dbSNP Id: rs2137330781
• MyVariant Identifiers: chr12:g.116434970G>C (hg19) ; chr12:g.115997165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997165G>C , CM000674.2:g.115997165G>C	GRCh38
NC_000012.11:g.116434970G>C , CM000674.1:g.116434970G>C	GRCh37
NC_000012.10:g.114919353G>C	NCBI36
NG_023366.1:g.285022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2635C>G MANE Select	ENSP00000281928.3:p.Pro879Ala
ENST00000548743.2:c.2605C>G	ENSP00000448553.2:p.Pro869Ala
ENST00000549786.2:c.2063C>G
ENST00000647927.1:n.3008C>G
ENST00000648173.1:n.1430C>G
ENST00000648379.1:n.1003C>G
ENST00000648737.1:n.2399C>G
ENST00000648916.1:n.646C>G
ENST00000649607.1:c.819C>G
ENST00000650226.1:c.2635C>G	ENSP00000496981.1:p.Pro879Ala
ENST00000281928.7:c.2635C>G	ENSP00000281928.3:p.Pro879Ala
NM_015335.4:c.2635C>G	NP_056150.1:p.Pro879Ala
XM_011538080.1:c.2635C>G	XP_011536382.1:p.Pro879Ala
XM_011538081.1:c.2632C>G	XP_011536383.1:p.Pro878Ala
XM_011538082.1:c.2605C>G	XP_011536384.1:p.Pro869Ala
XM_011538080.2:c.2635C>G	XP_011536382.1:p.Pro879Ala
XM_011538081.2:c.2632C>G	XP_011536383.1:p.Pro878Ala
XM_011538082.2:c.2605C>G	XP_011536384.1:p.Pro869Ala
XM_017019090.1:c.2632C>G	XP_016874579.1:p.Pro878Ala
NM_015335.5:c.2635C>G MANE Select	NP_056150.1:p.Pro879Ala