Canonical Allele Identifier: CA608055748

Gene: MED13L

Linked Data

• dbSNP Id: rs1470314222
• gnomAD v2: 12-116422273-A-G
• gnomAD v3: 12-115984468-A-G
• gnomAD v4: 12-115984468-A-G
• MyVariant Identifiers: chr12:g.116422273A>G (hg19) ; chr12:g.115984468A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984468A>G , CM000674.2:g.115984468A>G	GRCh38
NC_000012.11:g.116422273A>G , CM000674.1:g.116422273A>G	GRCh37
NC_000012.10:g.114906656A>G	NCBI36
NG_023366.1:g.297719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-96T>C MANE Select	ENSP00000281928.3:n.4339-96T>C
ENST00000549786.2:c.3767-96T>C
ENST00000648379.1:n.2707-96T>C
ENST00000648737.1:n.4103-96T>C
ENST00000648825.1:n.1079-96T>C
ENST00000648916.1:n.2350-96T>C
ENST00000649146.1:n.973T>C
ENST00000649607.1:c.2523-96T>C
ENST00000649775.1:c.836-96T>C
ENST00000650091.1:n.2315-96T>C
ENST00000650226.1:c.4339-96T>C	ENSP00000496981.1:n.4339-96T>C
ENST00000281928.7:c.4339-96T>C	ENSP00000281928.3:n.4339-96T>C
NM_015335.4:c.4339-96T>C	NP_056150.1:n.4339-96T>C
XM_011538080.1:c.4339-96T>C	XP_011536382.1:n.4339-96T>C
XM_011538081.1:c.4336-96T>C	XP_011536383.1:n.4336-96T>C
XM_011538082.1:c.4309-96T>C	XP_011536384.1:n.4309-96T>C
XM_011538080.2:c.4339-96T>C	XP_011536382.1:n.4339-96T>C
XM_011538081.2:c.4336-96T>C	XP_011536383.1:n.4336-96T>C
XM_011538082.2:c.4309-96T>C	XP_011536384.1:n.4309-96T>C
XM_017019090.1:c.4336-96T>C	XP_016874579.1:n.4336-96T>C
NM_015335.5:c.4339-96T>C MANE Select	NP_056150.1:n.4339-96T>C