Canonical Allele Identifier: CA386889941

Gene: MED13L

Linked Data

• gnomAD v4: 12-115996675-A-G
• MyVariant Identifiers: chr12:g.116434480A>G (hg19) ; chr12:g.115996675A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996675A>G , CM000674.2:g.115996675A>G	GRCh38
NC_000012.11:g.116434480A>G , CM000674.1:g.116434480A>G	GRCh37
NC_000012.10:g.114918863A>G	NCBI36
NG_023366.1:g.285512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2797T>C MANE Select	ENSP00000281928.3:p.Ser933Pro
ENST00000548743.2:c.2767T>C	ENSP00000448553.2:p.Ser923Pro
ENST00000549786.2:c.2225T>C
ENST00000647927.1:n.3170T>C
ENST00000648173.1:n.1592T>C
ENST00000648379.1:n.1165T>C
ENST00000648737.1:n.2561T>C
ENST00000648916.1:n.808T>C
ENST00000649607.1:c.981T>C
ENST00000650226.1:c.2797T>C	ENSP00000496981.1:p.Ser933Pro
ENST00000281928.7:c.2797T>C	ENSP00000281928.3:p.Ser933Pro
NM_015335.4:c.2797T>C	NP_056150.1:p.Ser933Pro
XM_011538080.1:c.2797T>C	XP_011536382.1:p.Ser933Pro
XM_011538081.1:c.2794T>C	XP_011536383.1:p.Ser932Pro
XM_011538082.1:c.2767T>C	XP_011536384.1:p.Ser923Pro
XM_011538080.2:c.2797T>C	XP_011536382.1:p.Ser933Pro
XM_011538081.2:c.2794T>C	XP_011536383.1:p.Ser932Pro
XM_011538082.2:c.2767T>C	XP_011536384.1:p.Ser923Pro
XM_017019090.1:c.2794T>C	XP_016874579.1:p.Ser932Pro
NM_015335.5:c.2797T>C MANE Select	NP_056150.1:p.Ser933Pro