Canonical Allele Identifier: CA518012760

Gene: AMMECR1

Linked Data

• gnomAD v4: X-110264509-G-T
• MyVariant Identifiers: chrX:g.109507737G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264509G>T , CM000685.2:g.110264509G>T	GRCh38
NC_000023.10:g.109507737G>T , CM000685.1:g.109507737G>T	GRCh37
NC_000023.9:g.109394393G>T	NCBI36
NG_016469.1:g.180725C>A
NG_016469.2:g.180725C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.564C>A	ENSP00000509935.1:p.Leu188=
ENST00000262844.10:c.564C>A MANE Select	ENSP00000262844.5:p.Leu188=
ENST00000680410.1:n.531C>A
ENST00000262844.9:c.564C>A	ENSP00000262844.5:p.Leu188=
ENST00000372057.1:c.195C>A	ENSP00000361127.1:p.Leu65=
ENST00000372059.6:c.474-47877C>A	ENSP00000361129.2:n.474-47877C>A
ENST00000473662.1:n.264C>A
NM_001025580.1:c.474-47877C>A	NP_001020751.1:n.474-47877C>A
NM_001171689.1:c.195C>A	NP_001165160.1:p.Leu65=
NM_015365.2:c.564C>A	NP_056180.1:p.Leu188=
NM_015365.3:c.564C>A MANE Select	NP_056180.1:p.Leu188=
NM_001025580.2:c.474-47877C>A	NP_001020751.1:n.474-47877C>A
NM_001171689.2:c.195C>A	NP_001165160.1:p.Leu65=