Canonical Allele Identifier: CA481943250

Gene: MED13L

Linked Data

• dbSNP Id: rs1281269591
• gnomAD v3: 12-115970751-A-G
• gnomAD v4: 12-115970751-A-G
• MyVariant Identifiers: chr12:g.116408556A>G (hg19) ; chr12:g.115970751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970751A>G , CM000674.2:g.115970751A>G	GRCh38
NC_000012.11:g.116408556A>G , CM000674.1:g.116408556A>G	GRCh37
NC_000012.10:g.114892939A>G	NCBI36
NG_023366.1:g.311436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5910T>C MANE Select	ENSP00000281928.3:p.Ser1970=
ENST00000548784.2:n.2124T>C
ENST00000648379.1:n.4278T>C
ENST00000648737.1:n.5674T>C
ENST00000648825.1:n.4095T>C
ENST00000648916.1:n.3921T>C
ENST00000649607.1:c.4094T>C
ENST00000649775.1:c.2399T>C
ENST00000650226.1:c.5946T>C	ENSP00000496981.1:p.Ser1982=
ENST00000281928.7:c.5910T>C	ENSP00000281928.3:p.Ser1970=
ENST00000548784.1:n.408T>C
ENST00000552447.1:c.523T>C
NM_015335.4:c.5910T>C	NP_056150.1:p.Ser1970=
XM_011538080.1:c.5946T>C	XP_011536382.1:p.Ser1982=
XM_011538081.1:c.5943T>C	XP_011536383.1:p.Ser1981=
XM_011538082.1:c.5916T>C	XP_011536384.1:p.Ser1972=
XM_011538080.2:c.5946T>C	XP_011536382.1:p.Ser1982=
XM_011538081.2:c.5943T>C	XP_011536383.1:p.Ser1981=
XM_011538082.2:c.5916T>C	XP_011536384.1:p.Ser1972=
XM_017019090.1:c.5907T>C	XP_016874579.1:p.Ser1969=
NM_015335.5:c.5910T>C MANE Select	NP_056150.1:p.Ser1970=