Canonical Allele Identifier: CA518012813

Gene: AMMECR1

Linked Data

• MyVariant Identifiers: chrX:g.109507815T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264587T>A , CM000685.2:g.110264587T>A	GRCh38
NC_000023.10:g.109507815T>A , CM000685.1:g.109507815T>A	GRCh37
NC_000023.9:g.109394471T>A	NCBI36
NG_016469.1:g.180647A>T
NG_016469.2:g.180647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.486A>T	ENSP00000509935.1:p.Val162=
ENST00000262844.10:c.486A>T MANE Select	ENSP00000262844.5:p.Val162=
ENST00000680410.1:n.453A>T
ENST00000262844.9:c.486A>T	ENSP00000262844.5:p.Val162=
ENST00000372057.1:c.117A>T	ENSP00000361127.1:p.Val39=
ENST00000372059.6:c.474-47955A>T	ENSP00000361129.2:n.474-47955A>T
ENST00000473662.1:n.186A>T
NM_001025580.1:c.474-47955A>T	NP_001020751.1:n.474-47955A>T
NM_001171689.1:c.117A>T	NP_001165160.1:p.Val39=
NM_015365.2:c.486A>T	NP_056180.1:p.Val162=
NM_015365.3:c.486A>T MANE Select	NP_056180.1:p.Val162=
NM_001025580.2:c.474-47955A>T	NP_001020751.1:n.474-47955A>T
NM_001171689.2:c.117A>T	NP_001165160.1:p.Val39=