Canonical Allele Identifier: CA518012814
Gene: AMMECR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.109507815T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.110264587T>C , CM000685.2:g.110264587T>C GRCh38
NC_000023.10:g.109507815T>C , CM000685.1:g.109507815T>C GRCh37
NC_000023.9:g.109394471T>C NCBI36
NG_016469.1:g.180647A>G
NG_016469.2:g.180647A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686065.1:c.486A>G ENSP00000509935.1:p.Val162=
ENST00000262844.10:c.486A>G MANE Select ENSP00000262844.5:p.Val162=
ENST00000680410.1:n.453A>G
ENST00000262844.9:c.486A>G ENSP00000262844.5:p.Val162=
ENST00000372057.1:c.117A>G ENSP00000361127.1:p.Val39=
ENST00000372059.6:c.474-47955A>G ENSP00000361129.2:n.474-47955A>G
ENST00000473662.1:n.186A>G
NM_001025580.1:c.474-47955A>G NP_001020751.1:n.474-47955A>G
NM_001171689.1:c.117A>G NP_001165160.1:p.Val39=
NM_015365.2:c.486A>G NP_056180.1:p.Val162=
NM_015365.3:c.486A>G MANE Select NP_056180.1:p.Val162=
NM_001025580.2:c.474-47955A>G NP_001020751.1:n.474-47955A>G
NM_001171689.2:c.117A>G NP_001165160.1:p.Val39=