Canonical Allele Identifier: CA482137269

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429498A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991693A>C , CM000674.2:g.115991693A>C	GRCh38
NC_000012.11:g.116429498A>C , CM000674.1:g.116429498A>C	GRCh37
NC_000012.10:g.114913881A>C	NCBI36
NG_023366.1:g.290494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3261T>G MANE Select	ENSP00000281928.3:p.Ser1087=
ENST00000548743.2:c.3231T>G	ENSP00000448553.2:p.Ser1077=
ENST00000549786.2:c.2689T>G
ENST00000648379.1:n.1629T>G
ENST00000648737.1:n.3025T>G
ENST00000648825.1:n.1T>G
ENST00000648916.1:n.1272T>G
ENST00000649607.1:c.1445T>G
ENST00000650226.1:c.3261T>G	ENSP00000496981.1:p.Ser1087=
ENST00000281928.7:c.3261T>G	ENSP00000281928.3:p.Ser1087=
NM_015335.4:c.3261T>G	NP_056150.1:p.Ser1087=
XM_011538080.1:c.3261T>G	XP_011536382.1:p.Ser1087=
XM_011538081.1:c.3258T>G	XP_011536383.1:p.Ser1086=
XM_011538082.1:c.3231T>G	XP_011536384.1:p.Ser1077=
XM_011538080.2:c.3261T>G	XP_011536382.1:p.Ser1087=
XM_011538081.2:c.3258T>G	XP_011536383.1:p.Ser1086=
XM_011538082.2:c.3231T>G	XP_011536384.1:p.Ser1077=
XM_017019090.1:c.3258T>G	XP_016874579.1:p.Ser1086=
NM_015335.5:c.3261T>G MANE Select	NP_056150.1:p.Ser1087=