Canonical Allele Identifier: CA2694459676

Gene: AMMECR1

Linked Data

• gnomAD v4: X-110264430-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264430A>T , CM000685.2:g.110264430A>T	GRCh38
NC_000023.10:g.109507658A>T , CM000685.1:g.109507658A>T	GRCh37
NC_000023.9:g.109394314A>T	NCBI36
NG_016469.1:g.180804T>A
NG_016469.2:g.180804T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+59T>A	ENSP00000509935.1:n.584+59T>A
ENST00000262844.10:c.584+59T>A MANE Select	ENSP00000262844.5:n.584+59T>A
ENST00000680410.1:n.551+59T>A
ENST00000262844.9:c.584+59T>A	ENSP00000262844.5:n.584+59T>A
ENST00000372057.1:c.215+59T>A	ENSP00000361127.1:n.215+59T>A
ENST00000372059.6:c.474-47798T>A	ENSP00000361129.2:n.474-47798T>A
ENST00000473662.1:n.284+59T>A
NM_001025580.1:c.474-47798T>A	NP_001020751.1:n.474-47798T>A
NM_001171689.1:c.215+59T>A	NP_001165160.1:n.215+59T>A
NM_015365.2:c.584+59T>A	NP_056180.1:n.584+59T>A
NM_015365.3:c.584+59T>A MANE Select	NP_056180.1:n.584+59T>A
NM_001025580.2:c.474-47798T>A	NP_001020751.1:n.474-47798T>A
NM_001171689.2:c.215+59T>A	NP_001165160.1:n.215+59T>A