Canonical Allele Identifier: CA414222994

Gene: AMMECR1

Linked Data

• gnomAD v4: X-110264599-G-T
• COSMIC: COSM5619727
• MyVariant Identifiers: chrX:g.109507827G>T (hg19) ; chrX:g.110264599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264599G>T , CM000685.2:g.110264599G>T	GRCh38
NC_000023.10:g.109507827G>T , CM000685.1:g.109507827G>T	GRCh37
NC_000023.9:g.109394483G>T	NCBI36
NG_016469.1:g.180635C>A
NG_016469.2:g.180635C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.474C>A	ENSP00000509935.1:p.Tyr158Ter
ENST00000262844.10:c.474C>A MANE Select	ENSP00000262844.5:p.Tyr158Ter
ENST00000680410.1:n.441C>A
ENST00000262844.9:c.474C>A	ENSP00000262844.5:p.Tyr158Ter
ENST00000372057.1:c.105C>A	ENSP00000361127.1:p.Tyr35Ter
ENST00000372059.6:c.474-47967C>A	ENSP00000361129.2:n.474-47967C>A
ENST00000473662.1:n.174C>A
NM_001025580.1:c.474-47967C>A	NP_001020751.1:n.474-47967C>A
NM_001171689.1:c.105C>A	NP_001165160.1:p.Tyr35Ter
NM_015365.2:c.474C>A	NP_056180.1:p.Tyr158Ter
NM_015365.3:c.474C>A MANE Select	NP_056180.1:p.Tyr158Ter
NM_001025580.2:c.474-47967C>A	NP_001020751.1:n.474-47967C>A
NM_001171689.2:c.105C>A	NP_001165160.1:p.Tyr35Ter