Canonical Allele Identifier: CA481948817

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429633T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991828T>C , CM000674.2:g.115991828T>C	GRCh38
NC_000012.11:g.116429633T>C , CM000674.1:g.116429633T>C	GRCh37
NC_000012.10:g.114914016T>C	NCBI36
NG_023366.1:g.290359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3126A>G MANE Select	ENSP00000281928.3:p.Ala1042=
ENST00000548743.2:c.3096A>G	ENSP00000448553.2:p.Ala1032=
ENST00000549786.2:c.2554A>G
ENST00000648173.1:n.1921A>G
ENST00000648379.1:n.1494A>G
ENST00000648737.1:n.2890A>G
ENST00000648916.1:n.1137A>G
ENST00000649607.1:c.1310A>G
ENST00000650226.1:c.3126A>G	ENSP00000496981.1:p.Ala1042=
ENST00000281928.7:c.3126A>G	ENSP00000281928.3:p.Ala1042=
NM_015335.4:c.3126A>G	NP_056150.1:p.Ala1042=
XM_011538080.1:c.3126A>G	XP_011536382.1:p.Ala1042=
XM_011538081.1:c.3123A>G	XP_011536383.1:p.Ala1041=
XM_011538082.1:c.3096A>G	XP_011536384.1:p.Ala1032=
XM_011538080.2:c.3126A>G	XP_011536382.1:p.Ala1042=
XM_011538081.2:c.3123A>G	XP_011536383.1:p.Ala1041=
XM_011538082.2:c.3096A>G	XP_011536384.1:p.Ala1032=
XM_017019090.1:c.3123A>G	XP_016874579.1:p.Ala1041=
NM_015335.5:c.3126A>G MANE Select	NP_056150.1:p.Ala1042=