Canonical Allele Identifier: CA10491566

Gene: AMMECR1

Linked Data

• dbSNP Id: rs752085232
• ExAC: X:109507683 T / C
• gnomAD v2: X-109507683-T-C
• gnomAD v3: X-110264455-T-C
• gnomAD v4: X-110264455-T-C
• MyVariant Identifiers: chrX:g.109507683T>C (hg19) ; chrX:g.110264455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264455T>C , CM000685.2:g.110264455T>C	GRCh38
NC_000023.10:g.109507683T>C , CM000685.1:g.109507683T>C	GRCh37
NC_000023.9:g.109394339T>C	NCBI36
NG_016469.1:g.180779A>G
NG_016469.2:g.180779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+34A>G	ENSP00000509935.1:n.584+34A>G
ENST00000262844.10:c.584+34A>G MANE Select	ENSP00000262844.5:n.584+34A>G
ENST00000680410.1:n.551+34A>G
ENST00000262844.9:c.584+34A>G	ENSP00000262844.5:n.584+34A>G
ENST00000372057.1:c.215+34A>G	ENSP00000361127.1:n.215+34A>G
ENST00000372059.6:c.474-47823A>G	ENSP00000361129.2:n.474-47823A>G
ENST00000473662.1:n.284+34A>G
NM_001025580.1:c.474-47823A>G	NP_001020751.1:n.474-47823A>G
NM_001171689.1:c.215+34A>G	NP_001165160.1:n.215+34A>G
NM_015365.2:c.584+34A>G	NP_056180.1:n.584+34A>G
NM_015365.3:c.584+34A>G MANE Select	NP_056180.1:n.584+34A>G
NM_001025580.2:c.474-47823A>G	NP_001020751.1:n.474-47823A>G
NM_001171689.2:c.215+34A>G	NP_001165160.1:n.215+34A>G