Canonical Allele Identifier: CA414222973

Gene: AMMECR1

Linked Data

• MyVariant Identifiers: chrX:g.109507817C>G (hg19) ; chrX:g.110264589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264589C>G , CM000685.2:g.110264589C>G	GRCh38
NC_000023.10:g.109507817C>G , CM000685.1:g.109507817C>G	GRCh37
NC_000023.9:g.109394473C>G	NCBI36
NG_016469.1:g.180645G>C
NG_016469.2:g.180645G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.484G>C	ENSP00000509935.1:p.Val162Leu
ENST00000262844.10:c.484G>C MANE Select	ENSP00000262844.5:p.Val162Leu
ENST00000680410.1:n.451G>C
ENST00000262844.9:c.484G>C	ENSP00000262844.5:p.Val162Leu
ENST00000372057.1:c.115G>C	ENSP00000361127.1:p.Val39Leu
ENST00000372059.6:c.474-47957G>C	ENSP00000361129.2:n.474-47957G>C
ENST00000473662.1:n.184G>C
NM_001025580.1:c.474-47957G>C	NP_001020751.1:n.474-47957G>C
NM_001171689.1:c.115G>C	NP_001165160.1:p.Val39Leu
NM_015365.2:c.484G>C	NP_056180.1:p.Val162Leu
NM_015365.3:c.484G>C MANE Select	NP_056180.1:p.Val162Leu
NM_001025580.2:c.474-47957G>C	NP_001020751.1:n.474-47957G>C
NM_001171689.2:c.115G>C	NP_001165160.1:p.Val39Leu