Canonical Allele Identifier: CA10491569

Gene: AMMECR1

Linked Data

• dbSNP Id: rs750464722
• ExAC: X:109507714 C / T
• gnomAD v2: X-109507714-C-T
• gnomAD v3: X-110264486-C-T
• gnomAD v4: X-110264486-C-T
• MyVariant Identifiers: chrX:g.109507714C>T (hg19) ; chrX:g.110264486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264486C>T , CM000685.2:g.110264486C>T	GRCh38
NC_000023.10:g.109507714C>T , CM000685.1:g.109507714C>T	GRCh37
NC_000023.9:g.109394370C>T	NCBI36
NG_016469.1:g.180748G>A
NG_016469.2:g.180748G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686065.1:c.584+3G>A	ENSP00000509935.1:n.584+3G>A
ENST00000262844.10:c.584+3G>A MANE Select	ENSP00000262844.5:n.584+3G>A
ENST00000680410.1:n.551+3G>A
ENST00000262844.9:c.584+3G>A	ENSP00000262844.5:n.584+3G>A
ENST00000372057.1:c.215+3G>A	ENSP00000361127.1:n.215+3G>A
ENST00000372059.6:c.474-47854G>A	ENSP00000361129.2:n.474-47854G>A
ENST00000473662.1:n.284+3G>A
NM_001025580.1:c.474-47854G>A	NP_001020751.1:n.474-47854G>A
NM_001171689.1:c.215+3G>A	NP_001165160.1:n.215+3G>A
NM_015365.2:c.584+3G>A	NP_056180.1:n.584+3G>A
NM_015365.3:c.584+3G>A MANE Select	NP_056180.1:n.584+3G>A
NM_001025580.2:c.474-47854G>A	NP_001020751.1:n.474-47854G>A
NM_001171689.2:c.215+3G>A	NP_001165160.1:n.215+3G>A