Canonical Allele Identifier: CA643796932

Gene: AMMECR1

Linked Data

• dbSNP Id: rs1230683929
• gnomAD v2: X-109507616-G-A
• gnomAD v3: X-110264388-G-A
• gnomAD v4: X-110264388-G-A
• MyVariant Identifiers: chrX:g.109507616G>A (hg19) ; chrX:g.110264388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264388G>A , CM000685.2:g.110264388G>A	GRCh38
NC_000023.10:g.109507616G>A , CM000685.1:g.109507616G>A	GRCh37
NC_000023.9:g.109394272G>A	NCBI36
NG_016469.1:g.180846C>T
NG_016469.2:g.180846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+101C>T	ENSP00000509935.1:n.584+101C>T
ENST00000262844.10:c.584+101C>T MANE Select	ENSP00000262844.5:n.584+101C>T
ENST00000680410.1:n.551+101C>T
ENST00000262844.9:c.584+101C>T	ENSP00000262844.5:n.584+101C>T
ENST00000372057.1:c.215+101C>T	ENSP00000361127.1:n.215+101C>T
ENST00000372059.6:c.474-47756C>T	ENSP00000361129.2:n.474-47756C>T
ENST00000473662.1:n.284+101C>T
NM_001025580.1:c.474-47756C>T	NP_001020751.1:n.474-47756C>T
NM_001171689.1:c.215+101C>T	NP_001165160.1:n.215+101C>T
NM_015365.2:c.584+101C>T	NP_056180.1:n.584+101C>T
NM_015365.3:c.584+101C>T MANE Select	NP_056180.1:n.584+101C>T
NM_001025580.2:c.474-47756C>T	NP_001020751.1:n.474-47756C>T
NM_001171689.2:c.215+101C>T	NP_001165160.1:n.215+101C>T