Canonical Allele Identifier: CA403243197
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025050081
gnomAD v4: 19-2251745-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251745G>T , CM000681.2:g.2251745G>T GRCh38
NC_000019.9:g.2251744G>T , CM000681.1:g.2251744G>T GRCh37
NC_000019.8:g.2202744G>T NCBI36
NG_012190.1:g.7632G>T
NG_032853.1:g.9679C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1471G>T MANE Select ENSP00000221496.2:p.Val491Leu
ENST00000221496.4:c.1471G>T ENSP00000221496.2:p.Val491Leu
NM_000479.3:c.1471G>T NP_000470.2:p.Val491Leu
NM_000479.4:c.1471G>T NP_000470.2:p.Val491Leu
NM_000479.5:c.1471G>T MANE Select NP_000470.3:p.Val491Leu