Canonical Allele Identifier: CA394739994
Community Standard Title: NM_003745.2(SOCS1):c.460T>C (p.Tyr154His)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11255019A>G , CM000678.2:g.11255019A>G GRCh38
NC_000016.9:g.11348876A>G , CM000678.1:g.11348876A>G GRCh37
NC_000016.8:g.11256377A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003745.2:c.460T>C (SOCS1) MANE Select NP_003736.1:p.Tyr154His
ENST00000332029.4:c.460T>C (SOCS1) MANE Select ENSP00000329418.2:p.Tyr154His
NM_003745.1:c.460T>C (SOCS1) NP_003736.1:p.Tyr154His
ENST00000332029.2:c.460T>C (SOCS1) ENSP00000329418.2:p.Tyr154His
ENST00000332029.3:c.460T>C (SOCS1) ENSP00000329418.2:p.Tyr154His
ENST00000572173.1:c.-516+5241A>G (RMI2) ENSP00000461206.1:n.-516+5241A>G
ENST00000573910.1:n.160+5241A>G (RMI2)
ENST00000644787.1:c.460T>C (SOCS1) ENSP00000496577.1:p.Tyr154His
ENST00000649869.1:n.152+5241A>G (RMI2)
XR_933070.1:n.733+5241A>G
XR_933070.3:n.876+5241A>G