Canonical Allele Identifier: CA2694459709

Gene: AMMECR1

Linked Data

• gnomAD v4: X-110264461-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264461A>G , CM000685.2:g.110264461A>G	GRCh38
NC_000023.10:g.109507689A>G , CM000685.1:g.109507689A>G	GRCh37
NC_000023.9:g.109394345A>G	NCBI36
NG_016469.1:g.180773T>C
NG_016469.2:g.180773T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+28T>C	ENSP00000509935.1:n.584+28T>C
ENST00000262844.10:c.584+28T>C MANE Select	ENSP00000262844.5:n.584+28T>C
ENST00000680410.1:n.551+28T>C
ENST00000262844.9:c.584+28T>C	ENSP00000262844.5:n.584+28T>C
ENST00000372057.1:c.215+28T>C	ENSP00000361127.1:n.215+28T>C
ENST00000372059.6:c.474-47829T>C	ENSP00000361129.2:n.474-47829T>C
ENST00000473662.1:n.284+28T>C
NM_001025580.1:c.474-47829T>C	NP_001020751.1:n.474-47829T>C
NM_001171689.1:c.215+28T>C	NP_001165160.1:n.215+28T>C
NM_015365.2:c.584+28T>C	NP_056180.1:n.584+28T>C
NM_015365.3:c.584+28T>C MANE Select	NP_056180.1:n.584+28T>C
NM_001025580.2:c.474-47829T>C	NP_001020751.1:n.474-47829T>C
NM_001171689.2:c.215+28T>C	NP_001165160.1:n.215+28T>C