Canonical Allele Identifier: CA386876072

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408401T>G (hg19) ; chr12:g.115970596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970596T>G , CM000674.2:g.115970596T>G	GRCh38
NC_000012.11:g.116408401T>G , CM000674.1:g.116408401T>G	GRCh37
NC_000012.10:g.114892784T>G	NCBI36
NG_023366.1:g.311591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6065A>C MANE Select	ENSP00000281928.3:p.Asn2022Thr
ENST00000548784.2:n.2279A>C
ENST00000648379.1:n.4433A>C
ENST00000648737.1:n.5829A>C
ENST00000648825.1:n.4250A>C
ENST00000648916.1:n.4076A>C
ENST00000649607.1:c.4249A>C
ENST00000649775.1:c.2554A>C
ENST00000650226.1:c.6101A>C	ENSP00000496981.1:p.Asn2034Thr
ENST00000281928.7:c.6065A>C	ENSP00000281928.3:p.Asn2022Thr
NM_015335.4:c.6065A>C	NP_056150.1:p.Asn2022Thr
XM_011538080.1:c.6101A>C	XP_011536382.1:p.Asn2034Thr
XM_011538081.1:c.6098A>C	XP_011536383.1:p.Asn2033Thr
XM_011538082.1:c.6071A>C	XP_011536384.1:p.Asn2024Thr
XM_011538080.2:c.6101A>C	XP_011536382.1:p.Asn2034Thr
XM_011538081.2:c.6098A>C	XP_011536383.1:p.Asn2033Thr
XM_011538082.2:c.6071A>C	XP_011536384.1:p.Asn2024Thr
XM_017019090.1:c.6062A>C	XP_016874579.1:p.Asn2021Thr
NM_015335.5:c.6065A>C MANE Select	NP_056150.1:p.Asn2022Thr