Canonical Allele Identifier: CA481943132

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408400A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970595A>G , CM000674.2:g.115970595A>G	GRCh38
NC_000012.11:g.116408400A>G , CM000674.1:g.116408400A>G	GRCh37
NC_000012.10:g.114892783A>G	NCBI36
NG_023366.1:g.311592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6066T>C MANE Select	ENSP00000281928.3:p.Asn2022=
ENST00000548784.2:n.2280T>C
ENST00000648379.1:n.4434T>C
ENST00000648737.1:n.5830T>C
ENST00000648825.1:n.4251T>C
ENST00000648916.1:n.4077T>C
ENST00000649607.1:c.4250T>C
ENST00000649775.1:c.2555T>C
ENST00000650226.1:c.6102T>C	ENSP00000496981.1:p.Asn2034=
ENST00000281928.7:c.6066T>C	ENSP00000281928.3:p.Asn2022=
NM_015335.4:c.6066T>C	NP_056150.1:p.Asn2022=
XM_011538080.1:c.6102T>C	XP_011536382.1:p.Asn2034=
XM_011538081.1:c.6099T>C	XP_011536383.1:p.Asn2033=
XM_011538082.1:c.6072T>C	XP_011536384.1:p.Asn2024=
XM_011538080.2:c.6102T>C	XP_011536382.1:p.Asn2034=
XM_011538081.2:c.6099T>C	XP_011536383.1:p.Asn2033=
XM_011538082.2:c.6072T>C	XP_011536384.1:p.Asn2024=
XM_017019090.1:c.6063T>C	XP_016874579.1:p.Asn2021=
NM_015335.5:c.6066T>C MANE Select	NP_056150.1:p.Asn2022=