Canonical Allele Identifier: CA386890572

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1993450
• ClinVar RCV Id: RCV002801405
• MyVariant Identifiers: chr12:g.116434892T>G (hg19) ; chr12:g.115997087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997087T>G , CM000674.2:g.115997087T>G	GRCh38
NC_000012.11:g.116434892T>G , CM000674.1:g.116434892T>G	GRCh37
NC_000012.10:g.114919275T>G	NCBI36
NG_023366.1:g.285100A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2713A>C MANE Select	ENSP00000281928.3:p.Met905Leu
ENST00000548743.2:c.2683A>C	ENSP00000448553.2:p.Met895Leu
ENST00000549786.2:c.2141A>C
ENST00000647927.1:n.3086A>C
ENST00000648173.1:n.1508A>C
ENST00000648379.1:n.1081A>C
ENST00000648737.1:n.2477A>C
ENST00000648916.1:n.724A>C
ENST00000649607.1:c.897A>C
ENST00000650226.1:c.2713A>C	ENSP00000496981.1:p.Met905Leu
ENST00000281928.7:c.2713A>C	ENSP00000281928.3:p.Met905Leu
NM_015335.4:c.2713A>C	NP_056150.1:p.Met905Leu
XM_011538080.1:c.2713A>C	XP_011536382.1:p.Met905Leu
XM_011538081.1:c.2710A>C	XP_011536383.1:p.Met904Leu
XM_011538082.1:c.2683A>C	XP_011536384.1:p.Met895Leu
XM_011538080.2:c.2713A>C	XP_011536382.1:p.Met905Leu
XM_011538081.2:c.2710A>C	XP_011536383.1:p.Met904Leu
XM_011538082.2:c.2683A>C	XP_011536384.1:p.Met895Leu
XM_017019090.1:c.2710A>C	XP_016874579.1:p.Met904Leu
NM_015335.5:c.2713A>C MANE Select	NP_056150.1:p.Met905Leu