Canonical Allele Identifier: CA481943141

Gene: MED13L

Linked Data

• dbSNP Id: rs1176476865
• gnomAD v2: 12-116408418-A-G
• gnomAD v4: 12-115970613-A-G
• MyVariant Identifiers: chr12:g.116408418A>G (hg19) ; chr12:g.115970613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970613A>G , CM000674.2:g.115970613A>G	GRCh38
NC_000012.11:g.116408418A>G , CM000674.1:g.116408418A>G	GRCh37
NC_000012.10:g.114892801A>G	NCBI36
NG_023366.1:g.311574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6048T>C MANE Select	ENSP00000281928.3:p.Asp2016=
ENST00000548784.2:n.2262T>C
ENST00000648379.1:n.4416T>C
ENST00000648737.1:n.5812T>C
ENST00000648825.1:n.4233T>C
ENST00000648916.1:n.4059T>C
ENST00000649607.1:c.4232T>C
ENST00000649775.1:c.2537T>C
ENST00000650226.1:c.6084T>C	ENSP00000496981.1:p.Asp2028=
ENST00000281928.7:c.6048T>C	ENSP00000281928.3:p.Asp2016=
NM_015335.4:c.6048T>C	NP_056150.1:p.Asp2016=
XM_011538080.1:c.6084T>C	XP_011536382.1:p.Asp2028=
XM_011538081.1:c.6081T>C	XP_011536383.1:p.Asp2027=
XM_011538082.1:c.6054T>C	XP_011536384.1:p.Asp2018=
XM_011538080.2:c.6084T>C	XP_011536382.1:p.Asp2028=
XM_011538081.2:c.6081T>C	XP_011536383.1:p.Asp2027=
XM_011538082.2:c.6054T>C	XP_011536384.1:p.Asp2018=
XM_017019090.1:c.6045T>C	XP_016874579.1:p.Asp2015=
NM_015335.5:c.6048T>C MANE Select	NP_056150.1:p.Asp2016=