Canonical Allele Identifier: CA414222963

Gene: AMMECR1

Linked Data

• MyVariant Identifiers: chrX:g.109507813G>A (hg19) ; chrX:g.110264585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264585G>A , CM000685.2:g.110264585G>A	GRCh38
NC_000023.10:g.109507813G>A , CM000685.1:g.109507813G>A	GRCh37
NC_000023.9:g.109394469G>A	NCBI36
NG_016469.1:g.180649C>T
NG_016469.2:g.180649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.488C>T	ENSP00000509935.1:p.Thr163Ile
ENST00000262844.10:c.488C>T MANE Select	ENSP00000262844.5:p.Thr163Ile
ENST00000680410.1:n.455C>T
ENST00000262844.9:c.488C>T	ENSP00000262844.5:p.Thr163Ile
ENST00000372057.1:c.119C>T	ENSP00000361127.1:p.Thr40Ile
ENST00000372059.6:c.474-47953C>T	ENSP00000361129.2:n.474-47953C>T
ENST00000473662.1:n.188C>T
NM_001025580.1:c.474-47953C>T	NP_001020751.1:n.474-47953C>T
NM_001171689.1:c.119C>T	NP_001165160.1:p.Thr40Ile
NM_015365.2:c.488C>T	NP_056180.1:p.Thr163Ile
NM_015365.3:c.488C>T MANE Select	NP_056180.1:p.Thr163Ile
NM_001025580.2:c.474-47953C>T	NP_001020751.1:n.474-47953C>T
NM_001171689.2:c.119C>T	NP_001165160.1:p.Thr40Ile