Canonical Allele Identifier: CA411442541
Community Standard Title: NM_013385.5(CYTH4):c.748G>A (p.Gly250Ser)
Gene: CYTH4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37309263G>A , CM000684.2:g.37309263G>A GRCh38
NC_000022.10:g.37705304G>A , CM000684.1:g.37705304G>A GRCh37
NC_000022.9:g.36035250G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013385.5:c.748G>A MANE Select NP_037517.1:p.Gly250Ser
ENST00000248901.11:c.748G>A MANE Select ENSP00000248901.6:p.Gly250Ser
NM_001318024.1:c.577G>A NP_001304953.1:p.Gly193Ser
NM_001318024.2:c.577G>A NP_001304953.1:p.Gly193Ser
NM_013385.3:c.748G>A NP_037517.1:p.Gly250Ser
NM_013385.4:c.748G>A NP_037517.1:p.Gly250Ser
ENST00000248901.10:c.748G>A ENSP00000248901.6:p.Gly250Ser
ENST00000462927.5:n.908G>A
XM_011530147.1:c.577G>A XP_011528449.1:p.Gly193Ser
XM_011530147.2:c.577G>A XP_011528449.1:p.Gly193Ser
XM_011530148.1:c.199G>A XP_011528450.1:p.Gly67Ser
XM_011530148.2:c.199G>A XP_011528450.1:p.Gly67Ser
XR_001755214.2:n.960G>A
XR_002958685.1:n.1359G>A
XR_430406.2:n.979G>A
XR_938233.1:n.348+8129C>T
XR_938233.2:n.348+8129C>T