Canonical Allele Identifier: CA414222957
Gene: AMMECR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.110264582C>A , CM000685.2:g.110264582C>A GRCh38
NC_000023.10:g.109507810C>A , CM000685.1:g.109507810C>A GRCh37
NC_000023.9:g.109394466C>A NCBI36
NG_016469.1:g.180652G>T
NG_016469.2:g.180652G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686065.1:c.491G>T ENSP00000509935.1:p.Trp164Leu
ENST00000262844.10:c.491G>T MANE Select ENSP00000262844.5:p.Trp164Leu
ENST00000680410.1:n.458G>T
ENST00000262844.9:c.491G>T ENSP00000262844.5:p.Trp164Leu
ENST00000372057.1:c.122G>T ENSP00000361127.1:p.Trp41Leu
ENST00000372059.6:c.474-47950G>T ENSP00000361129.2:n.474-47950G>T
ENST00000473662.1:n.191G>T
NM_001025580.1:c.474-47950G>T NP_001020751.1:n.474-47950G>T
NM_001171689.1:c.122G>T NP_001165160.1:p.Trp41Leu
NM_015365.2:c.491G>T NP_056180.1:p.Trp164Leu
NM_015365.3:c.491G>T MANE Select NP_056180.1:p.Trp164Leu
NM_001025580.2:c.474-47950G>T NP_001020751.1:n.474-47950G>T
NM_001171689.2:c.122G>T NP_001165160.1:p.Trp41Leu