Canonical Allele Identifier: CA386876632

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970753-A-G
• MyVariant Identifiers: chr12:g.116408558A>G (hg19) ; chr12:g.115970753A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970753A>G , CM000674.2:g.115970753A>G	GRCh38
NC_000012.11:g.116408558A>G , CM000674.1:g.116408558A>G	GRCh37
NC_000012.10:g.114892941A>G	NCBI36
NG_023366.1:g.311434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5908T>C MANE Select	ENSP00000281928.3:p.Ser1970Pro
ENST00000548784.2:n.2122T>C
ENST00000648379.1:n.4276T>C
ENST00000648737.1:n.5672T>C
ENST00000648825.1:n.4093T>C
ENST00000648916.1:n.3919T>C
ENST00000649607.1:c.4092T>C
ENST00000649775.1:c.2397T>C
ENST00000650226.1:c.5944T>C	ENSP00000496981.1:p.Ser1982Pro
ENST00000281928.7:c.5908T>C	ENSP00000281928.3:p.Ser1970Pro
ENST00000548784.1:n.406T>C
ENST00000552447.1:c.521T>C
NM_015335.4:c.5908T>C	NP_056150.1:p.Ser1970Pro
XM_011538080.1:c.5944T>C	XP_011536382.1:p.Ser1982Pro
XM_011538081.1:c.5941T>C	XP_011536383.1:p.Ser1981Pro
XM_011538082.1:c.5914T>C	XP_011536384.1:p.Ser1972Pro
XM_011538080.2:c.5944T>C	XP_011536382.1:p.Ser1982Pro
XM_011538081.2:c.5941T>C	XP_011536383.1:p.Ser1981Pro
XM_011538082.2:c.5914T>C	XP_011536384.1:p.Ser1972Pro
XM_017019090.1:c.5905T>C	XP_016874579.1:p.Ser1969Pro
NM_015335.5:c.5908T>C MANE Select	NP_056150.1:p.Ser1970Pro