Canonical Allele Identifier: CA414222766

Gene: AMMECR1

Linked Data

• MyVariant Identifiers: chrX:g.109507726G>A (hg19) ; chrX:g.110264498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264498G>A , CM000685.2:g.110264498G>A	GRCh38
NC_000023.10:g.109507726G>A , CM000685.1:g.109507726G>A	GRCh37
NC_000023.9:g.109394382G>A	NCBI36
NG_016469.1:g.180736C>T
NG_016469.2:g.180736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.575C>T	ENSP00000509935.1:p.Thr192Ile
ENST00000262844.10:c.575C>T MANE Select	ENSP00000262844.5:p.Thr192Ile
ENST00000680410.1:n.542C>T
ENST00000262844.9:c.575C>T	ENSP00000262844.5:p.Thr192Ile
ENST00000372057.1:c.206C>T	ENSP00000361127.1:p.Thr69Ile
ENST00000372059.6:c.474-47866C>T	ENSP00000361129.2:n.474-47866C>T
ENST00000473662.1:n.275C>T
NM_001025580.1:c.474-47866C>T	NP_001020751.1:n.474-47866C>T
NM_001171689.1:c.206C>T	NP_001165160.1:p.Thr69Ile
NM_015365.2:c.575C>T	NP_056180.1:p.Thr192Ile
NM_015365.3:c.575C>T MANE Select	NP_056180.1:p.Thr192Ile
NM_001025580.2:c.474-47866C>T	NP_001020751.1:n.474-47866C>T
NM_001171689.2:c.206C>T	NP_001165160.1:p.Thr69Ile