Canonical Allele Identifier: CA2451308038

Gene: AMMECR1

Linked Data

• dbSNP Id: rs2067756937
• gnomAD v3: X-110264419-G-A
• gnomAD v4: X-110264419-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264419G>A , CM000685.2:g.110264419G>A	GRCh38
NC_000023.10:g.109507647G>A , CM000685.1:g.109507647G>A	GRCh37
NC_000023.9:g.109394303G>A	NCBI36
NG_016469.1:g.180815C>T
NG_016469.2:g.180815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+70C>T	ENSP00000509935.1:n.584+70C>T
ENST00000262844.10:c.584+70C>T MANE Select	ENSP00000262844.5:n.584+70C>T
ENST00000680410.1:n.551+70C>T
ENST00000262844.9:c.584+70C>T	ENSP00000262844.5:n.584+70C>T
ENST00000372057.1:c.215+70C>T	ENSP00000361127.1:n.215+70C>T
ENST00000372059.6:c.474-47787C>T	ENSP00000361129.2:n.474-47787C>T
ENST00000473662.1:n.284+70C>T
NM_001025580.1:c.474-47787C>T	NP_001020751.1:n.474-47787C>T
NM_001171689.1:c.215+70C>T	NP_001165160.1:n.215+70C>T
NM_015365.2:c.584+70C>T	NP_056180.1:n.584+70C>T
NM_015365.3:c.584+70C>T MANE Select	NP_056180.1:n.584+70C>T
NM_001025580.2:c.474-47787C>T	NP_001020751.1:n.474-47787C>T
NM_001171689.2:c.215+70C>T	NP_001165160.1:n.215+70C>T