Canonical Allele Identifier: CA386874603

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403941C>G (hg19) ; chr12:g.115966136C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966136C>G , CM000674.2:g.115966136C>G	GRCh38
NC_000012.11:g.116403941C>G , CM000674.1:g.116403941C>G	GRCh37
NC_000012.10:g.114888324C>G	NCBI36
NG_023366.1:g.316051G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6333G>C MANE Select	ENSP00000281928.3:p.Gln2111His
ENST00000548784.2:n.2547G>C
ENST00000648379.1:n.4701G>C
ENST00000648737.1:n.6097G>C
ENST00000648762.1:n.1023G>C
ENST00000648825.1:n.4518G>C
ENST00000648916.1:n.4344G>C
ENST00000649607.1:c.4517G>C
ENST00000649775.1:c.2664G>C
ENST00000650226.1:c.6369G>C	ENSP00000496981.1:p.Gln2123His
ENST00000281928.7:c.6333G>C	ENSP00000281928.3:p.Gln2111His
NM_015335.4:c.6333G>C	NP_056150.1:p.Gln2111His
XM_011538080.1:c.6369G>C	XP_011536382.1:p.Gln2123His
XM_011538081.1:c.6366G>C	XP_011536383.1:p.Gln2122His
XM_011538082.1:c.6339G>C	XP_011536384.1:p.Gln2113His
XM_011538080.2:c.6369G>C	XP_011536382.1:p.Gln2123His
XM_011538081.2:c.6366G>C	XP_011536383.1:p.Gln2122His
XM_011538082.2:c.6339G>C	XP_011536384.1:p.Gln2113His
XM_017019090.1:c.6330G>C	XP_016874579.1:p.Gln2110His
NM_015335.5:c.6333G>C MANE Select	NP_056150.1:p.Gln2111His