Canonical Allele Identifier: CA518012747
Gene: AMMECR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.109507719G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.110264491G>T , CM000685.2:g.110264491G>T GRCh38
NC_000023.10:g.109507719G>T , CM000685.1:g.109507719G>T GRCh37
NC_000023.9:g.109394375G>T NCBI36
NG_016469.1:g.180743C>A
NG_016469.2:g.180743C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686065.1:c.582C>A ENSP00000509935.1:p.Thr194=
ENST00000262844.10:c.582C>A MANE Select ENSP00000262844.5:p.Thr194=
ENST00000680410.1:n.549C>A
ENST00000262844.9:c.582C>A ENSP00000262844.5:p.Thr194=
ENST00000372057.1:c.213C>A ENSP00000361127.1:p.Thr71=
ENST00000372059.6:c.474-47859C>A ENSP00000361129.2:n.474-47859C>A
ENST00000473662.1:n.282C>A
NM_001025580.1:c.474-47859C>A NP_001020751.1:n.474-47859C>A
NM_001171689.1:c.213C>A NP_001165160.1:p.Thr71=
NM_015365.2:c.582C>A NP_056180.1:p.Thr194=
NM_015365.3:c.582C>A MANE Select NP_056180.1:p.Thr194=
NM_001025580.2:c.474-47859C>A NP_001020751.1:n.474-47859C>A
NM_001171689.2:c.213C>A NP_001165160.1:p.Thr71=