Canonical Allele Identifier: CA414222969

Gene: AMMECR1

Linked Data

• MyVariant Identifiers: chrX:g.109507816A>C (hg19) ; chrX:g.110264588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264588A>C , CM000685.2:g.110264588A>C	GRCh38
NC_000023.10:g.109507816A>C , CM000685.1:g.109507816A>C	GRCh37
NC_000023.9:g.109394472A>C	NCBI36
NG_016469.1:g.180646T>G
NG_016469.2:g.180646T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.485T>G	ENSP00000509935.1:p.Val162Gly
ENST00000262844.10:c.485T>G MANE Select	ENSP00000262844.5:p.Val162Gly
ENST00000680410.1:n.452T>G
ENST00000262844.9:c.485T>G	ENSP00000262844.5:p.Val162Gly
ENST00000372057.1:c.116T>G	ENSP00000361127.1:p.Val39Gly
ENST00000372059.6:c.474-47956T>G	ENSP00000361129.2:n.474-47956T>G
ENST00000473662.1:n.185T>G
NM_001025580.1:c.474-47956T>G	NP_001020751.1:n.474-47956T>G
NM_001171689.1:c.116T>G	NP_001165160.1:p.Val39Gly
NM_015365.2:c.485T>G	NP_056180.1:p.Val162Gly
NM_015365.3:c.485T>G MANE Select	NP_056180.1:p.Val162Gly
NM_001025580.2:c.474-47956T>G	NP_001020751.1:n.474-47956T>G
NM_001171689.2:c.116T>G	NP_001165160.1:p.Val39Gly