Canonical Allele Identifier: CA386888248

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429451A>C (hg19) ; chr12:g.115991646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991646A>C , CM000674.2:g.115991646A>C	GRCh38
NC_000012.11:g.116429451A>C , CM000674.1:g.116429451A>C	GRCh37
NC_000012.10:g.114913834A>C	NCBI36
NG_023366.1:g.290541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3308T>G MANE Select	ENSP00000281928.3:p.Ile1103Ser
ENST00000549786.2:c.2736T>G
ENST00000648379.1:n.1676T>G
ENST00000648737.1:n.3072T>G
ENST00000648825.1:n.48T>G
ENST00000648916.1:n.1319T>G
ENST00000649607.1:c.1492T>G
ENST00000650226.1:c.3308T>G	ENSP00000496981.1:p.Ile1103Ser
ENST00000281928.7:c.3308T>G	ENSP00000281928.3:p.Ile1103Ser
NM_015335.4:c.3308T>G	NP_056150.1:p.Ile1103Ser
XM_011538080.1:c.3308T>G	XP_011536382.1:p.Ile1103Ser
XM_011538081.1:c.3305T>G	XP_011536383.1:p.Ile1102Ser
XM_011538082.1:c.3278T>G	XP_011536384.1:p.Ile1093Ser
XM_011538080.2:c.3308T>G	XP_011536382.1:p.Ile1103Ser
XM_011538081.2:c.3305T>G	XP_011536383.1:p.Ile1102Ser
XM_011538082.2:c.3278T>G	XP_011536384.1:p.Ile1093Ser
XM_017019090.1:c.3305T>G	XP_016874579.1:p.Ile1102Ser
NM_015335.5:c.3308T>G MANE Select	NP_056150.1:p.Ile1103Ser