Canonical Allele Identifier: CA386876078

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408404T>G (hg19) ; chr12:g.115970599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970599T>G , CM000674.2:g.115970599T>G	GRCh38
NC_000012.11:g.116408404T>G , CM000674.1:g.116408404T>G	GRCh37
NC_000012.10:g.114892787T>G	NCBI36
NG_023366.1:g.311588A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6062A>C MANE Select	ENSP00000281928.3:p.Asn2021Thr
ENST00000548784.2:n.2276A>C
ENST00000648379.1:n.4430A>C
ENST00000648737.1:n.5826A>C
ENST00000648825.1:n.4247A>C
ENST00000648916.1:n.4073A>C
ENST00000649607.1:c.4246A>C
ENST00000649775.1:c.2551A>C
ENST00000650226.1:c.6098A>C	ENSP00000496981.1:p.Asn2033Thr
ENST00000281928.7:c.6062A>C	ENSP00000281928.3:p.Asn2021Thr
NM_015335.4:c.6062A>C	NP_056150.1:p.Asn2021Thr
XM_011538080.1:c.6098A>C	XP_011536382.1:p.Asn2033Thr
XM_011538081.1:c.6095A>C	XP_011536383.1:p.Asn2032Thr
XM_011538082.1:c.6068A>C	XP_011536384.1:p.Asn2023Thr
XM_011538080.2:c.6098A>C	XP_011536382.1:p.Asn2033Thr
XM_011538081.2:c.6095A>C	XP_011536383.1:p.Asn2032Thr
XM_011538082.2:c.6068A>C	XP_011536384.1:p.Asn2023Thr
XM_017019090.1:c.6059A>C	XP_016874579.1:p.Asn2020Thr
NM_015335.5:c.6062A>C MANE Select	NP_056150.1:p.Asn2021Thr