Canonical Allele Identifier: CA386882759

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116421070A>G (hg19) ; chr12:g.115983265A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983265A>G , CM000674.2:g.115983265A>G	GRCh38
NC_000012.11:g.116421070A>G , CM000674.1:g.116421070A>G	GRCh37
NC_000012.10:g.114905453A>G	NCBI36
NG_023366.1:g.298922T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4807T>C MANE Select	ENSP00000281928.3:p.Ser1603Pro
ENST00000549786.2:c.4235T>C
ENST00000648379.1:n.3175T>C
ENST00000648737.1:n.4571T>C
ENST00000648825.1:n.1547T>C
ENST00000648916.1:n.2818T>C
ENST00000649146.1:n.1537T>C
ENST00000649607.1:c.2991T>C
ENST00000649775.1:c.1304T>C
ENST00000650226.1:c.4807T>C	ENSP00000496981.1:p.Ser1603Pro
ENST00000281928.7:c.4807T>C	ENSP00000281928.3:p.Ser1603Pro
ENST00000549786.1:c.171T>C
NM_015335.4:c.4807T>C	NP_056150.1:p.Ser1603Pro
XM_011538080.1:c.4807T>C	XP_011536382.1:p.Ser1603Pro
XM_011538081.1:c.4804T>C	XP_011536383.1:p.Ser1602Pro
XM_011538082.1:c.4777T>C	XP_011536384.1:p.Ser1593Pro
XM_011538080.2:c.4807T>C	XP_011536382.1:p.Ser1603Pro
XM_011538081.2:c.4804T>C	XP_011536383.1:p.Ser1602Pro
XM_011538082.2:c.4777T>C	XP_011536384.1:p.Ser1593Pro
XM_017019090.1:c.4804T>C	XP_016874579.1:p.Ser1602Pro
NM_015335.5:c.4807T>C MANE Select	NP_056150.1:p.Ser1603Pro