Canonical Allele Identifier: CA414222848

Gene: AMMECR1

Linked Data

• MyVariant Identifiers: chrX:g.109507760C>T (hg19) ; chrX:g.110264532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264532C>T , CM000685.2:g.110264532C>T	GRCh38
NC_000023.10:g.109507760C>T , CM000685.1:g.109507760C>T	GRCh37
NC_000023.9:g.109394416C>T	NCBI36
NG_016469.1:g.180702G>A
NG_016469.2:g.180702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.541G>A	ENSP00000509935.1:p.Ala181Thr
ENST00000262844.10:c.541G>A MANE Select	ENSP00000262844.5:p.Ala181Thr
ENST00000680410.1:n.508G>A
ENST00000262844.9:c.541G>A	ENSP00000262844.5:p.Ala181Thr
ENST00000372057.1:c.172G>A	ENSP00000361127.1:p.Ala58Thr
ENST00000372059.6:c.474-47900G>A	ENSP00000361129.2:n.474-47900G>A
ENST00000473662.1:n.241G>A
NM_001025580.1:c.474-47900G>A	NP_001020751.1:n.474-47900G>A
NM_001171689.1:c.172G>A	NP_001165160.1:p.Ala58Thr
NM_015365.2:c.541G>A	NP_056180.1:p.Ala181Thr
NM_015365.3:c.541G>A MANE Select	NP_056180.1:p.Ala181Thr
NM_001025580.2:c.474-47900G>A	NP_001020751.1:n.474-47900G>A
NM_001171689.2:c.172G>A	NP_001165160.1:p.Ala58Thr