Canonical Allele Identifier: CA518012818
Gene: AMMECR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.109507821C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.110264593C>G , CM000685.2:g.110264593C>G GRCh38
NC_000023.10:g.109507821C>G , CM000685.1:g.109507821C>G GRCh37
NC_000023.9:g.109394477C>G NCBI36
NG_016469.1:g.180641G>C
NG_016469.2:g.180641G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686065.1:c.480G>C ENSP00000509935.1:p.Leu160=
ENST00000262844.10:c.480G>C MANE Select ENSP00000262844.5:p.Leu160=
ENST00000680410.1:n.447G>C
ENST00000262844.9:c.480G>C ENSP00000262844.5:p.Leu160=
ENST00000372057.1:c.111G>C ENSP00000361127.1:p.Leu37=
ENST00000372059.6:c.474-47961G>C ENSP00000361129.2:n.474-47961G>C
ENST00000473662.1:n.180G>C
NM_001025580.1:c.474-47961G>C NP_001020751.1:n.474-47961G>C
NM_001171689.1:c.111G>C NP_001165160.1:p.Leu37=
NM_015365.2:c.480G>C NP_056180.1:p.Leu160=
NM_015365.3:c.480G>C MANE Select NP_056180.1:p.Leu160=
NM_001025580.2:c.474-47961G>C NP_001020751.1:n.474-47961G>C
NM_001171689.2:c.111G>C NP_001165160.1:p.Leu37=